S48Q (p.Ser48Gln) variant of CMA1 (Chymase)
S48Q (p.Ser48Gln) in CMA1 (Chymase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S48Q (p.Ser48Gln) variant details
- p.Ser48Gln
- gnomAD 14-24507423-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.54
- Most common in the 1KG:JPT population (allele frequency 0.025)
- Structural context available
- Literature evidence available