A19S (p.Ala19Ser) variant of CMA1 (Chymase)
A19S (p.Ala19Ser) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- ESP rs150093806
- ExAC rs150093806
- TOPMed rs150093806
- gnomAD rs150093806
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.03
- ESM-1b 0.06
- AlphaMissense 0.14
- CADD 15.60
- PolyPhen-2 0.09
- SIFT 0.04
- Most common in the Amish population (allele frequency 1)
- Structural context available