N171K (p.Asn171Lys) variant of KRT6A (Keratin, type II cytoskeletal 6A)
N171K (p.Asn171Lys) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pachyonychia congenita 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
N171K (p.Asn171Lys) variant details
- p.Asn171Lys
- rs59685571
- ClinGen CA217356
- ClinVar RCV000057011
- ClinVar RCV000128821
- Pathogenic
- Pachyonychia congenita 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Pachyonychia congenita 3; not provided)
- EBI: Pathogenic (in PC3)
- UniProt: Pathogenic (in PC3)
- Structural context available
- Cited in: A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia… (PMID 10232400)
- Cited in: The genetic basis of pachyonychia congenita. (PMID 16250206)