V186E (p.Val186Glu) variant of KRT5 (Keratin, type II cytoskeletal 5)
V186E (p.Val186Glu) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
V186E (p.Val186Glu) variant details
- p.Val186Glu
- rs267607457
- ClinGen CA216765
- ClinVar RCV000056626
- ClinVar RCV001352774
- Pathogenic
- Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Epidermolysis bullosa simplex)
- EBI: Pathogenic (in EBS2C)
- UniProt: Pathogenic (in EBS2C)
- Structural context available
- Cited in: Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. (PMID 21623745)
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)