N92H (p.Asn92His) variant of KRT17 (Keratin, type I cytoskeletal 17)
N92H (p.Asn92His) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Steatocystoma multiplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
N92H (p.Asn92His) variant details
- p.Asn92His
- rs28928896
- ClinGen CA124153
- ClinVar RCV000015691
- ClinVar RCV000056509
- Pathogenic
- Steatocystoma multiplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Steatocystoma multiplex)
- EBI: Pathogenic (in SM)
- UniProt: Pathogenic (in SM)
- Structural context available
- Cited in: Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma… (PMID 9008238)
- Cited in: Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and… (PMID 16620218)