I167N (p.Ile167Asn) variant of KRT6A (Keratin, type II cytoskeletal 6A)
I167N (p.Ile167Asn) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pachyonychia congenita 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
I167N (p.Ile167Asn) variant details
- p.Ile167Asn
- rs57126929
- ClinGen CA217347
- ClinVar RCV000057004
- ClinVar RCV004703204
- Likely pathogenic
- Pachyonychia congenita 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Pachyonychia congenita 3)
- EBI: Pathogenic (in PC3)
- UniProt: Pathogenic (in PC3)
- Structural context available
- Cited in: The genetic basis of pachyonychia congenita. (PMID 16250206)
- Cited in: Pachyonychia Congenita. (PMID 20301457)