H66S (p.His66Ser) variant of CMA1 (Chymase)
H66S (p.His66Ser) in CMA1 (Chymase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H66S (p.His66Ser) variant details
- p.His66Ser
- rs755008668
- gnomAD 14-24507370-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available
- Literature evidence available