G50D (p.Gly50Asp) variant of CAV3 (Caveolin-3)
G50D (p.Gly50Asp) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- gnomAD 3-8745560-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available