L62L (p.Leu62Leu) variant of CMA1 (Chymase)
L62L (p.Leu62Leu) in CMA1 (Chymase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L62L (p.Leu62Leu) variant details
- p.Leu62Leu
- gnomAD 14-24507379-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 8.85
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available
- Literature evidence available