R33S (p.Arg33Ser) variant of CMA1 (Chymase)
R33S (p.Arg33Ser) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R33S (p.Arg33Ser) variant details
- p.Arg33Ser
- 1000Genomes rs138432864
- ESP rs138432864
- ExAC rs138432864
- TOPMed rs138432864
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 24.10
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available