F54F (p.Phe54Phe) variant of CMA1 (Chymase)
F54F (p.Phe54Phe) 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.
F54F (p.Phe54Phe) variant details
- p.Phe54Phe
- rs896348903
- gnomAD 14-24507403-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 6.30
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Literature evidence available