Variant: 12-64882317-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64882317-T-C p.Val464Ala missense TBK1 233 9256 0.025172861 4628 4 0.0162051


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.1391T>C p.Val464Ala possibly
downstream_gene TBK1 ENST00000545025 n.*3051T>C NA NA
non_coding_transcript_exon TBK1 ENST00000536906 n.707T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
0.0162051 NA 0.0134862 0.014333 0.00252016 0.003125 NA


Carrier

Gender count:
Ancestry count: