A19G (p.Ala19Gly) variant of CMA1 (Chymase)
A19G (p.Ala19Gly) 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.
A19G (p.Ala19Gly) variant details
- p.Ala19Gly
- ExAC rs770759950
- TOPMed rs770759950
- gnomAD rs770759950
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available