E478G (p.Glu478Gly) variant of KRT1 (Keratin, type II cytoskeletal 1)
E478G (p.Glu478Gly) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolytic hyperkeratosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
E478G (p.Glu478Gly) variant details
- p.Glu478Gly
- rs2121000699
- ClinGen CA384962317
- NCI-TCGA Cosmic COSV5286
- ClinVar RCV004594632
- Pathogenic
- Epidermolytic hyperkeratosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Epidermolytic hyperkeratosis 1)
- EBI: Pathogenic (in EHK1)
- UniProt: Pathogenic (in EHK1)
- Structural context available