D55G (p.Asp55Gly) variant of CAV3 (Caveolin-3)
D55G (p.Asp55Gly) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
D55G (p.Asp55Gly) variant details
- p.Asp55Gly
- rs2470061980
- ClinGen CA351663208
- ClinVar RCV003177586
- cosmic curated COSV10967
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- ESM-1b 1.00
- AlphaMissense 0.82
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available