C67S (p.Cys67Ser) variant of CMA1 (Chymase)
C67S (p.Cys67Ser) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C67S (p.Cys67Ser) variant details
- p.Cys67Ser
- gnomAD 14-24507365-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Literature evidence available