A11D (p.Ala11Asp) variant of CAV3 (Caveolin-3)
A11D (p.Ala11Asp) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A11D (p.Ala11Asp) variant details
- p.Ala11Asp
- gnomAD 3-8733908-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.36
- MetaSVM -0.38
- CADD 22.20
- Population evidence available
- Structural context available
- Literature evidence available