E27G (p.Glu27Gly) variant of CMA1 (Chymase)
E27G (p.Glu27Gly) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- ExAC rs748509171
- gnomAD rs748509171
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.38
- CADD 25.50
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available