Variant: 2-238475266-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475266-C-T p.Ala17Val missense PRLH 1 81540 1.2263919E-5 40770 0 0.00152749


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense PRLH ENST00000165524 c.50C>T p.Ala17Val NA
downstream_gene RNU6-1140P ENST00000410517 n.*3353C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
1.33067E-4 NA 3.07393E-5 3.18674E-5 0.00152749 NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M amyotrophic lateral sclerosis EastAsian HET 31 0.5483871 99 PASS