E46K (p.Glu46Lys) variant of CALCA (P06881)
E46K (p.Glu46Lys) in CALCA (P06881) 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 0.32 / 1. The record also includes population frequency data.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- rs782339903
- NCI-TCGA Cosmic COSV5902
- cosmic curated COSV59027
- ExAC rs782339903
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.19
- CADD 23.20
- PolyPhen-2 0.88
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)