N193K (p.Asn193Lys) variant of KRT5 (Keratin, type II cytoskeletal 5)
N193K (p.Asn193Lys) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Epidermolysis bullosa simplex 1A, generalized severe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
N193K (p.Asn193Lys) variant details
- p.Asn193Lys
- rs60586163
- ClinGen CA216773
- ClinVar RCV000056632
- ClinVar RCV001352776
- Pathogenic/Likely pathogenic
- not provided; Epidermolysis bullosa simplex 1A, generalized severe
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epidermolysis bullosa simplex 1A, generalized seve)
- EBI: Pathogenic (in EBS2A and EBS2C)
- UniProt: Pathogenic (in EBS2A and EBS2C)
- Structural context available
- Cited in: Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the… (PMID 8807337)
- Cited in: Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. (PMID 21623745)