H6N (p.His6Asn) variant of CAV3 (Caveolin-3)
H6N (p.His6Asn) 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.
H6N (p.His6Asn) variant details
- p.His6Asn
- gnomAD 3-8733892-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.42
- MetaSVM -0.62
- CADD 15.30
- Population evidence available
- Structural context available
- Literature evidence available