N92D (p.Asn92Asp) variant of KRT17 (Keratin, type I cytoskeletal 17)
N92D (p.Asn92Asp) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
N92D (p.Asn92Asp) variant details
- p.Asn92Asp
- rs28928896
- ClinGen CA216607
- ClinVar RCV000015688
- ClinVar RCV000056510
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.94
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- CADD 28.90
- PolyPhen-2 0.99
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in PC2)
- UniProt: Pathogenic (in PC2)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. (PMID 7529318)
- Cited in: Keratin 16 and keratin 17 mutations cause pachyonychia congenita. (PMID 7539673)