E40K (p.Glu40Lys) variant of CMA1 (Chymase)
E40K (p.Glu40Lys) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- gnomAD rs1389826522
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 14.80
- PolyPhen-2 0.02
- SIFT 0.22
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available