A17D (p.Ala17Asp) variant of CMA1 (Chymase)
A17D (p.Ala17Asp) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A17D (p.Ala17Asp) variant details
- p.Ala17Asp
- ExAC rs374563696
- gnomAD rs374563696
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.14
- ESM-1b 0.58
- AlphaMissense 0.27
- CADD 19.70
- PolyPhen-2 0.44
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available