E34G (p.Glu34Gly) variant of CAV3 (Caveolin-3)
E34G (p.Glu34Gly) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E34G (p.Glu34Gly) variant details
- p.Glu34Gly
- gnomAD 3-8733977-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.67
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.73
- MetaSVM 0.34
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available