A64D (p.Ala64Asp) variant of CMA1 (Chymase)
A64D (p.Ala64Asp) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
A64D (p.Ala64Asp) variant details
- p.Ala64Asp
- Ensembl rs775687715
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available