I22N (p.Ile22Asn) variant of CMA1 (Chymase)
I22N (p.Ile22Asn) 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.
I22N (p.Ile22Asn) variant details
- p.Ile22Asn
- TOPMed rs1481267836
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.79
- SIFT 0.00
- Structural context available