F174V (p.Phe174Val) variant of KRT6A (Keratin, type II cytoskeletal 6A)
F174V (p.Phe174Val) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
F174V (p.Phe174Val) variant details
- p.Phe174Val
- rs28933087
- ClinGen CA124168
- ClinVar RCV000015741
- ClinVar RCV000057013
- Pathogenic
- Pachyonychia congenita 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.95
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Pachyonychia congenita 3)
- EBI: Pathogenic (in PC3)
- UniProt: Pathogenic (in PC3)
- Population evidence available
- Structural context available
- Cited in: Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (PMID 11886499)
- Cited in: Pachyonychia Congenita. (PMID 20301457)