A65V (p.Ala65Val) variant of CMA1 (Chymase)
A65V (p.Ala65Val) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- gnomAD 14-24507371-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.85
- CADD 26.40
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available
- Literature evidence available