R33C (p.Arg33Cys) variant of CMA1 (Chymase)
R33C (p.Arg33Cys) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R33C (p.Arg33Cys) variant details
- p.Arg33Cys
- 1000Genomes rs138432864
- ESP rs138432864
- ExAC rs138432864
- TOPMed rs138432864
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.40
- CADD 23.30
- PolyPhen-2 0.14
- SIFT 0.04
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available