E311Q (p.Glu311Gln) variant of KRT1 (Keratin, type II cytoskeletal 1)
E311Q (p.Glu311Gln) 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 ichthyosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
E311Q (p.Glu311Gln) variant details
- p.Glu311Gln
- rs137853224
- ClinGen CA126041
- ClinVar RCV000017258
- Ensembl rs137853224
- Pathogenic
- Epidermolytic ichthyosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.22
- MetaLR 0.89
- MetaSVM 1.12
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.33
- ClinVar: Pathogenic (Epidermolytic ichthyosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. (PMID 1380725)