D35E (p.Asp35Glu) variant of CAV3 (Caveolin-3)
D35E (p.Asp35Glu) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D35E (p.Asp35Glu) variant details
- p.Asp35Glu
- gnomAD 3-8733981-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.65
- MetaSVM 0.06
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available