F174S (p.Phe174Ser) variant of KRT6A (Keratin, type II cytoskeletal 6A)
F174S (p.Phe174Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
F174S (p.Phe174Ser) variant details
- p.Phe174Ser
- rs61145796
- ClinGen CA170746
- ClinVar RCV000057014
- ClinVar RCV000144078
- Pathogenic
- Pachyonychia congenita 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Pachyonychia congenita 3)
- 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)