H6Q (p.His6Gln) variant of CAV3 (Caveolin-3)
H6Q (p.His6Gln) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H6Q (p.His6Gln) variant details
- p.His6Gln
- gnomAD 3-8733894-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.38
- MetaSVM -0.70
- CADD 16.70
- Population evidence available
- Structural context available
- Literature evidence available