R70G (p.Arg70Gly) variant of CMA1 (Chymase)
R70G (p.Arg70Gly) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R70G (p.Arg70Gly) variant details
- p.Arg70Gly
- TOPMed rs1247153427
- gnomAD rs1247153427
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 26.50
- PolyPhen-2 0.41
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available