N33N (p.Asn33Asn) variant of CAV3 (Caveolin-3)

Name: CAV3 N33N (p.Asn33Asn) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

N33N (p.Asn33Asn) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.

N33N (p.Asn33Asn) variant details

p.Asn33Asn
rs1008642
gnomAD 3-8733975-C-T
Synonymous
Variant Prioritization Score for Impact Estimate 0.136
CADD 7.85
Most common in the 1KG:MSL population (allele frequency 0.7)
Structural context available
Cited in: [Correlation between Genetic Variants and Polymorphism of Caveolin and Sudden Unexplained Death]. (PMID 29231014)
Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)