G53G (p.Gly53Gly) variant of CMA1 (Chymase)
G53G (p.Gly53Gly) in CMA1 (Chymase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
G53G (p.Gly53Gly) variant details
- p.Gly53Gly
- gnomAD 14-24507406-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0935
- CADD 1.81
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available
- Literature evidence available