V57V (p.Val57Val) variant of CAV3 (Caveolin-3)

Name: CAV3 V57V (p.Val57Val) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

V57V (p.Val57Val) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.

V57V (p.Val57Val) variant details

p.Val57Val
rs61147808
gnomAD 3-8745582-G-A
Synonymous
Variant Prioritization Score for Impact Estimate 0.207
CADD 8.55
Most common in the HGDP:SAN population (allele frequency 0.42)
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)