C51Y (p.Cys51Tyr) variant of CMA1 (Chymase)
C51Y (p.Cys51Tyr) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
C51Y (p.Cys51Tyr) variant details
- p.Cys51Tyr
- ExAC rs745343471
- TOPMed rs745343471
- gnomAD rs745343471
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available