G69V (p.Gly69Val) variant of CMA1 (Chymase)
G69V (p.Gly69Val) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G69V (p.Gly69Val) variant details
- p.Gly69Val
- 1000Genomes rs539562095
- ExAC rs539562095
- gnomAD rs539562095
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.65
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available