C67Y (p.Cys67Tyr) variant of CMA1 (Chymase)
C67Y (p.Cys67Tyr) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
C67Y (p.Cys67Tyr) variant details
- p.Cys67Tyr
- Ensembl rs2043866318
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available