E21K (p.Glu21Lys) variant of CMA1 (Chymase)
E21K (p.Glu21Lys) in CMA1 (Chymase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- rs1429605331
- NCI-TCGA Cosmic COSV9915
- TOPMed rs1429605331
- gnomAD rs1429605331
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.13
- ESM-1b 0.58
- AlphaMissense 0.19
- CADD 15.30
- PolyPhen-2 0.02
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available