E466Q (p.Glu466Gln) variant of KRT5 (Keratin, type II cytoskeletal 5)
E466Q (p.Glu466Gln) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
E466Q (p.Glu466Gln) variant details
- p.Glu466Gln
- rs1938615785
- ClinGen CA384923582
- ClinVar RCV001352784
- ClinVar RCV005094464
- Pathogenic/Likely pathogenic
- not provided; Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.99
- MetaLR 0.73
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epidermolysis bullosa simplex)
- EBI: Pathogenic (in EBS2B)
- UniProt: Pathogenic (in EBS2B)
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)