A65L (p.Ala65Leu) variant of CMA1 (Chymase)
A65L (p.Ala65Leu) in CMA1 (Chymase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A65L (p.Ala65Leu) variant details
- p.Ala65Leu
- rs748063446
- gnomAD 14-24507373-A-AGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Most common in the HGDP:MBUTI population (allele frequency 0.21)
- Structural context available
- Literature evidence available