V186L (p.Val186Leu) variant of KRT5 (Keratin, type II cytoskeletal 5)
V186L (p.Val186Leu) 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 0.97 / 1. The record also includes published literature and structural context.
V186L (p.Val186Leu) variant details
- p.Val186Leu
- rs121912475
- ClinGen CA216764
- ClinVar RCV000056625
- ClinVar RCV001352726
- Pathogenic
- 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 (Epidermolysis bullosa simplex)
- EBI: Pathogenic (in EBS2B)
- UniProt: Pathogenic (in EBS2B)
- Structural context available
- Cited in: A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of… (PMID 11407988)
- Cited in: Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. (PMID 16882168)