D28Y (p.Asp28Tyr) variant of CAV3 (Caveolin-3)
D28Y (p.Asp28Tyr) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
D28Y (p.Asp28Tyr) variant details
- p.Asp28Tyr
- gnomAD 3-8733958-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.93
- MetaSVM 1.09
- CADD 29.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available