V133M (p.Val133Met) variant of KRT14 (Keratin, type I cytoskeletal 14)
V133M (p.Val133Met) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Epidermolysis bullosa simplex 1C, localized. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
V133M (p.Val133Met) variant details
- p.Val133Met
- rs61027685
- ClinGen CA216937
- NCI-TCGA Cosmic COSV5142
- ClinVar RCV000056727
- Pathogenic/Likely pathogenic
- not provided; Epidermolysis bullosa simplex 1C, localized
- 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/Likely pathogenic (not provided; Epidermolysis bullosa simplex 1C, localized)
- EBI: Pathogenic (in EBS1C)
- UniProt: Pathogenic (in EBS1C)
- Structural context available
- Cited in: Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients… (PMID 26432462)
- Cited in: Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14… (PMID 10733662)