Q191E (p.Gln191Glu) variant of KRT5 (Keratin, type II cytoskeletal 5)
Q191E (p.Gln191Glu) 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 0.92 / 1. The record also includes published literature and structural context.
Q191E (p.Gln191Glu) variant details
- p.Gln191Glu
- rs1938667202
- ClinGen CA384927977
- ClinVar RCV001352775
- Ensembl rs1938667202
- Pathogenic
- Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.81
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Epidermolysis bullosa simplex)
- EBI: Pathogenic (in EBS2B and EBS2A)
- UniProt: Pathogenic (in EBS2B and EBS2A)
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)