H31Q (p.His31Gln) variant of CMA1 (Chymase)
H31Q (p.His31Gln) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
H31Q (p.His31Gln) variant details
- p.His31Gln
- TOPMed rs2043868015
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.77
- SIFT 0.00
- Structural context available