K74I (p.Lys74Ile) variant of KRT1 (Keratin, type II cytoskeletal 1)
K74I (p.Lys74Ile) 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 Diffuse nonepidermolytic palmoplantar keratoderma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
K74I (p.Lys74Ile) variant details
- p.Lys74Ile
- rs57977969
- ClinGen CA126045
- ClinVar RCV000017261
- ClinVar RCV000057080
- Pathogenic
- Diffuse nonepidermolytic palmoplantar keratoderma
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- AlphaMissense 0.96
- MetaLR 0.57
- MetaSVM -0.24
- PolyPhen-2 0.14
- SIFT 0.00
- EVE 0.48
- ClinVar: Pathogenic (Diffuse nonepidermolytic palmoplantar keratoderma)
- EBI: Pathogenic (in NEPPK)
- UniProt: Pathogenic (in NEPPK)
- Structural context available
- Cited in: A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. (PMID 7528239)