L170F (p.Leu170Phe) variant of KRT6A (Keratin, type II cytoskeletal 6A)
L170F (p.Leu170Phe) 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 0.95 / 1. The record also includes published literature and structural context.
L170F (p.Leu170Phe) variant details
- p.Leu170Phe
- rs57448541
- ClinGen CA217350
- ClinVar RCV000057006
- UniProt VAR 072449
- Pathogenic
- Pachyonychia congenita 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Pachyonychia congenita 3; not provided)
- EBI: Pathogenic (in PC3)
- UniProt: Pathogenic (in PC3)
- Structural context available
- Cited in: The genetic basis of pachyonychia congenita. (PMID 16250206)
- Cited in: A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia… (PMID 10232400)