A65D (p.Ala65Asp) variant of CMA1 (Chymase)
A65D (p.Ala65Asp) in CMA1 (Chymase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A65D (p.Ala65Asp) variant details
- p.Ala65Asp
- rs780997300
- gnomAD 14-24507371-G-GGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 32.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.024)
- Structural context available
- Literature evidence available