V133L (p.Val133Leu) variant of KRT14 (Keratin, type I cytoskeletal 14)
V133L (p.Val133Leu) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa simplex; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
V133L (p.Val133Leu) variant details
- p.Val133Leu
- rs61027685
- ClinGen CA216939
- ClinVar RCV000056728
- UniProt VAR 023723
- Pathogenic
- Epidermolysis bullosa simplex; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (Epidermolysis bullosa simplex; not provided)
- EBI: Pathogenic (in EBS1C and EBS1B)
- UniProt: Pathogenic (in EBS1C and EBS1B)
- Structural context available
- Cited in: Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. (PMID 14987259)
- Cited in: Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for… (PMID 16786515)