Y52H (p.Tyr52His) variant of CAV3 (Caveolin-3)
Y52H (p.Tyr52His) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Y52H (p.Tyr52His) variant details
- p.Tyr52His
- cosmic curated COSV57478
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available