G476D (p.Gly476Asp) variant of KRT5 (Keratin, type II cytoskeletal 5)
G476D (p.Gly476Asp) 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 KRT5-related disorder; not provided; Epidermolysis bullosa simplex 2B, generaliz. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
G476D (p.Gly476Asp) variant details
- p.Gly476Asp
- rs56922686
- ClinGen CA216671
- ClinVar RCV000056563
- ClinVar RCV002247452
- Pathogenic/Likely pathogenic
- KRT5-related disorder; not provided; Epidermolysis bullosa simplex 2B, generaliz
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.86
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic/Likely pathogenic (KRT5-related disorder; not provided; Epidermolysis bullosa simpl)
- EBI: Pathogenic (in EBS2C)
- UniProt: Pathogenic (in EBS2C)
- Structural context available
- Cited in: Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. (PMID 21375516)
- Cited in: Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients… (PMID 26432462)