H18Y (p.His18Tyr) variant of CAV3 (Caveolin-3)
H18Y (p.His18Tyr) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
H18Y (p.His18Tyr) variant details
- p.His18Tyr
- gnomAD 3-8733928-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.70
- MetaSVM 0.10
- CADD 22.30
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available