V186M (p.Val186Met) variant of KRT5 (Keratin, type II cytoskeletal 5)
V186M (p.Val186Met) 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 not provided; Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
V186M (p.Val186Met) variant details
- p.Val186Met
- rs121912475
- ClinGen CA216763
- ClinVar RCV000056624
- ClinVar RCV001352725
- Pathogenic
- not provided; Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (not provided; Epidermolysis bullosa simplex)
- EBI: Pathogenic (in EBS2B)
- UniProt: Pathogenic (in EBS2B)
- Structural context available
- Cited in: Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. (PMID 16882168)
- Cited in: Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients… (PMID 26432462)