R70S (p.Arg70Ser) variant of CMA1 (Chymase)
R70S (p.Arg70Ser) in CMA1 (Chymase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R70S (p.Arg70Ser) variant details
- p.Arg70Ser
- ExAC rs754716628
- TOPMed rs754716628
- gnomAD rs754716628
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 10.80
- PolyPhen-2 0.06
- SIFT 0.57
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.024)
- Structural context available