R57G (p.Arg57Gly) variant of CMA1 (Chymase)
R57G (p.Arg57Gly) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R57G (p.Arg57Gly) variant details
- p.Arg57Gly
- gnomAD 14-24507396-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 24.40
- PolyPhen-2 0.55
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available