R33H (p.Arg33His) variant of CMA1 (Chymase)
R33H (p.Arg33His) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R33H (p.Arg33His) variant details
- p.Arg33His
- ESP rs201020585
- ExAC rs201020585
- TOPMed rs201020585
- gnomAD rs201020585
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.10
- ESM-1b 0.70
- AlphaMissense 0.24
- CADD 17.10
- PolyPhen-2 0.04
- SIFT 0.14
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available