E28K (p.Glu28Lys) variant of CLCN5 (P51795)
E28K (p.Glu28Lys) in CLCN5 (P51795) 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 0.53 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10106
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.48
- MetaLR 0.49
- MetaSVM -0.15
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available