G69R (p.Gly69Arg) variant of CMA1 (Chymase)
G69R (p.Gly69Arg) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G69R (p.Gly69Arg) variant details
- p.Gly69Arg
- TOPMed rs931343730
- gnomAD rs931343730
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.57
- ESM-1b 0.89
- AlphaMissense 0.64
- CADD 25.40
- SIFT 0.01
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available