G50S (p.Gly50Ser) variant of CAV3 (Caveolin-3)
G50S (p.Gly50Ser) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G50S (p.Gly50Ser) variant details
- p.Gly50Ser
- gnomAD 3-8745559-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.79
- ESM-1b 0.00
- AlphaMissense 0.54
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available