E27Q (p.Glu27Gln) variant of CMA1 (Chymase)
E27Q (p.Glu27Gln) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- Ensembl rs2043868174
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- ESM-1b 1.00
- AlphaMissense 0.23
- SIFT 0.00
- Structural context available