D40G (p.Asp40Gly) variant of CAV3 (Caveolin-3)
D40G (p.Asp40Gly) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D40G (p.Asp40Gly) variant details
- p.Asp40Gly
- gnomAD 3-8745530-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.76
- ESM-1b 0.00
- AlphaMissense 0.43
- CADD 24.30
- PolyPhen-2 0.46
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available