A3E (p.Ala3Glu) variant of CAV3 (Caveolin-3)
A3E (p.Ala3Glu) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD 3-8733884-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.79
- MetaSVM 0.18
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available