V57G (p.Val57Gly) variant of CAV3 (Caveolin-3)
V57G (p.Val57Gly) in CAV3 (Caveolin-3) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
V57G (p.Val57Gly) variant details
- p.Val57Gly
- rs199476329
- ClinGen CA215169
- ClinVar RCV000024405
- Ensembl rs199476329
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: not provided (not provided)
- UniProt: Not provided (in HYPCK)
- Structural context available