H6Y (p.His6Tyr) variant of CAV3 (Caveolin-3)
H6Y (p.His6Tyr) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H6Y (p.His6Tyr) variant details
- p.His6Tyr
- gnomAD 3-8733892-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.50
- CADD 12.60
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available