H6D (p.His6Asp) variant of CAV3 (Caveolin-3)
H6D (p.His6Asp) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H6D (p.His6Asp) variant details
- p.His6Asp
- gnomAD 3-8733892-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.47
- MetaSVM -0.48
- CADD 16.60
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available