E21G (p.Glu21Gly) variant of CMA1 (Chymase)
E21G (p.Glu21Gly) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
E21G (p.Glu21Gly) variant details
- p.Glu21Gly
- TOPMed rs1265404594
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.21
- SIFT 0.01
- Structural context available