S46S (p.Ser46Ser) variant of ATP6V1B1 (P15313)

Name: ATP6V1B1 S46S (p.Ser46Ser) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

S46S (p.Ser46Ser) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.

S46S (p.Ser46Ser) variant details

p.Ser46Ser
rs2266918
gnomAD 2-70943677-C-T
Synonymous
Variant Prioritization Score for Impact Estimate 0.109
CADD 4.04
Most common in the HGDP:SURUI population (allele frequency 0.71)
Structural context available
Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)