N92S (p.Asn92Ser) variant of KRT17 (Keratin, type I cytoskeletal 17)
N92S (p.Asn92Ser) 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 Pachyonychia congenita 2; Steatocystoma multiplex; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
N92S (p.Asn92Ser) variant details
- p.Asn92Ser
- rs59151893
- ClinGen CA216610
- ClinVar RCV000015689
- ClinVar RCV000056512
- Pathogenic
- Pachyonychia congenita 2; Steatocystoma multiplex; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.91
- CADD 26.20
- PolyPhen-2 0.72
- SIFT 0.02
- ClinVar: Pathogenic (Pachyonychia congenita 2; Steatocystoma multiplex; not provided)
- EBI: Pathogenic (in PC2)
- UniProt: Pathogenic (in PC2)
- Population evidence available
- Structural context available
- Cited in: The genetic basis of pachyonychia congenita. (PMID 16250206)
- Cited in: A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. (PMID 17719747)