N188K (p.Asn188Lys) variant of KRT1 (Keratin, type II cytoskeletal 1)
N188K (p.Asn188Lys) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of KRT1-related disorder; not provided; Epidermolytic ichthyosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
N188K (p.Asn188Lys) variant details
- p.Asn188Lys
- rs59429455
- ClinGen CA384974914
- ClinVar RCV001293646
- UniProt VAR 017821
- Likely pathogenic
- KRT1-related disorder; not provided; Epidermolytic ichthyosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Likely pathogenic (Annular epidermolytic ichthyosis)
- EBI: Pathogenic (in EHK1)
- UniProt: Pathogenic (in EHK1)
- Structural context available
- Cited in: Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis. (PMID 12406348)
- Cited in: Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28… (PMID 21271994)