R70R (p.Arg70Arg) variant of CMA1 (Chymase)
R70R (p.Arg70Arg) 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.
R70R (p.Arg70Arg) variant details
- p.Arg70Arg
- rs754716628
- gnomAD 14-24506604-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.36
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available