R70K (p.Arg70Lys) variant of CMA1 (Chymase)
R70K (p.Arg70Lys) in CMA1 (Chymase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R70K (p.Arg70Lys) variant details
- p.Arg70Lys
- rs1235115695
- gnomAD 14-24507356-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 32.00
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Literature evidence available