S71C (p.Ser71Cys) variant of CMA1 (Chymase)
S71C (p.Ser71Cys) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S71C (p.Ser71Cys) variant details
- p.Ser71Cys
- gnomAD 14-24506602-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.37
- ESM-1b 0.63
- AlphaMissense 0.31
- CADD 21.70
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Literature evidence available