V465G (p.Val465Gly) variant of KRT5 (Keratin, type II cytoskeletal 5)
V465G (p.Val465Gly) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epidermolysis bullosa simplex, Koebner type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
V465G (p.Val465Gly) variant details
- p.Val465Gly
- rs1555156076
- ClinGen CA384923593
- ClinVar RCV000505555
- Ensembl rs1555156076
- Likely pathogenic
- Epidermolysis bullosa simplex, Koebner type
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 0.93
- MetaLR 0.81
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (Epidermolysis bullosa simplex, Koebner type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)