A68E (p.Ala68Glu) variant of CMA1 (Chymase)
A68E (p.Ala68Glu) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A68E (p.Ala68Glu) variant details
- p.Ala68Glu
- ExAC rs776027325
- gnomAD rs776027325
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.76
- Most common in the 1KG:JPT population (allele frequency 0.025)
- Structural context available