V61E (p.Val61Glu) variant of CMA1 (Chymase)
V61E (p.Val61Glu) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V61E (p.Val61Glu) variant details
- p.Val61Glu
- gnomAD rs1368868678
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.024)
- Structural context available