G46V (p.Gly46Val) variant of CMA1 (Chymase)
G46V (p.Gly46Val) in CMA1 (Chymase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G46V (p.Gly46Val) variant details
- p.Gly46Val
- gnomAD 14-24507427-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 14.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available