A37D (p.Ala37Asp) variant of CMA1 (Chymase)
A37D (p.Ala37Asp) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A37D (p.Ala37Asp) variant details
- p.Ala37Asp
- ExAC rs767494660
- TOPMed rs767494660
- gnomAD rs767494660
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available