A65A (p.Ala65Ala) variant of CMA1 (Chymase)
A65A (p.Ala65Ala) in CMA1 (Chymase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A65A (p.Ala65Ala) variant details
- p.Ala65Ala
- rs1280200670
- gnomAD 14-24507370-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.80
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available
- Literature evidence available