L187F (p.Leu187Phe) variant of KRT1 (Keratin, type II cytoskeletal 1)
L187F (p.Leu187Phe) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
L187F (p.Leu187Phe) variant details
- p.Leu187Phe
- rs59151464
- ClinGen CA217454
- ClinVar RCV000057089
- ClinVar RCV005252724
- Pathogenic
- Epidermolytic hyperkeratosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (Epidermolytic hyperkeratosis 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available