L469P (p.Leu469Pro) variant of KRT6A (Keratin, type II cytoskeletal 6A)
L469P (p.Leu469Pro) 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 0.96 / 1. The record also includes published literature and structural context.
L469P (p.Leu469Pro) variant details
- p.Leu469Pro
- rs57052654
- ClinGen CA170745
- ClinVar RCV000056996
- ClinVar RCV000144075
- Pathogenic
- Pachyonychia congenita 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: 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: A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. (PMID 17719747)