A68S (p.Ala68Ser) variant of CMA1 (Chymase)
A68S (p.Ala68Ser) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A68S (p.Ala68Ser) variant details
- p.Ala68Ser
- gnomAD 14-24507363-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.69
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Literature evidence available