H66Y (p.His66Tyr) variant of CMA1 (Chymase)
H66Y (p.His66Tyr) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
H66Y (p.His66Tyr) variant details
- p.His66Tyr
- ExAC rs776982970
- TOPMed rs776982970
- gnomAD rs776982970
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 25.20
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available