V61G (p.Val61Gly) variant of CMA1 (Chymase)
V61G (p.Val61Gly) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V61G (p.Val61Gly) variant details
- p.Val61Gly
- gnomAD 14-24507383-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.85
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available
- Literature evidence available