L208P (p.Leu208Pro) variant of KRT1 (Keratin, type II cytoskeletal 1)
L208P (p.Leu208Pro) 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 0.94 / 1. The record also includes structural context.
L208P (p.Leu208Pro) variant details
- p.Leu208Pro
- rs61616632
- ClinGen CA217469
- ClinVar RCV000057101
- ClinVar RCV000505690
- Pathogenic
- Epidermolytic ichthyosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (Epidermolytic ichthyosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available