L161S (p.Leu161Ser) variant of KRT10 (Keratin, type I cytoskeletal 10)
L161S (p.Leu161Ser) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolytic hyperkeratosis 2A, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
L161S (p.Leu161Ser) variant details
- p.Leu161Ser
- rs60118264
- ClinGen CA124128
- ClinVar RCV000056504
- ClinVar RCV004593963
- Pathogenic
- Epidermolytic hyperkeratosis 2A, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (Epidermolytic hyperkeratosis 2A, autosomal dominant)
- EBI: Pathogenic (in EHK2A)
- UniProt: Pathogenic (in EHK2A)
- Structural context available
- Cited in: Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. (PMID 1380725)
- Cited in: A novel substitution in keratin 10 in epidermolytic hyperkeratosis. (PMID 10201536)