L76L (p.Leu76Leu) variant of CMA1 (Chymase)
L76L (p.Leu76Leu) in CMA1 (Chymase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L76L (p.Leu76Leu) variant details
- p.Leu76Leu
- rs1282522462
- gnomAD 14-24506586-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 4.08
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available