V61A (p.Val61Ala) variant of CMA1 (Chymase)
V61A (p.Val61Ala) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V61A (p.Val61Ala) variant details
- p.Val61Ala
- gnomAD 14-24507383-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.80
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.03
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available