G52C (p.Gly52Cys) variant of CMA1 (Chymase)
G52C (p.Gly52Cys) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
G52C (p.Gly52Cys) variant details
- p.Gly52Cys
- ExAC rs778307845
- gnomAD rs778307845
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- ESM-1b 1.00
- AlphaMissense 0.71
- Structural context available