A17V (p.Ala17Val) variant of CMA1 (Chymase)
A17V (p.Ala17Val) in CMA1 (Chymase) is a missense change. 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.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- ExAC rs374563696
- gnomAD rs374563696
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 19.80
- PolyPhen-2 0.25
- SIFT 0.03
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available