E2K (p.Glu2Lys) variant of CLCN1 (Chloride channel protein 1)
E2K (p.Glu2Lys) in CLCN1 (Chloride channel protein 1) 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 0.33 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- NCI-TCGA Cosmic COSV1005
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.27
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available