V270M (p.Val270Met) variant of KRT14 (Keratin, type I cytoskeletal 14)
V270M (p.Val270Met) 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, Koebner type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
V270M (p.Val270Met) variant details
- p.Val270Met
- rs58560979
- ClinGen CA216978
- ClinVar RCV000056751
- ClinVar RCV001807773
- Pathogenic
- Epidermolysis bullosa simplex, Koebner type
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.96
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Epidermolysis bullosa simplex, Koebner type)
- EBI: Pathogenic (in EBS1A)
- UniProt: Pathogenic (in EBS1A)
- Structural context available
- Cited in: Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function. (PMID 7506097)
- Cited in: A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex. (PMID 10583131)