D28H (p.Asp28His) variant of CAV3 (Caveolin-3)
D28H (p.Asp28His) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
D28H (p.Asp28His) variant details
- p.Asp28His
- gnomAD 3-8733958-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.97
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- CADD 30.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available