L469R (p.Leu469Arg) variant of KRT6B (Keratin, type II cytoskeletal 6B)
L469R (p.Leu469Arg) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pachyonychia congenita 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L469R (p.Leu469Arg) variant details
- p.Leu469Arg
- rs1592169234
- ClinGen CA384981786
- ClinVar RCV001007639
- Ensembl rs1592169234
- Pathogenic
- Pachyonychia congenita 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Pachyonychia congenita 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: The molecular genetic analysis of the expanding pachyonychia congenita case collection. (PMID 24611874)
- Cited in: Pachyonychia Congenita. (PMID 20301457)