G931D (p.Gly931Asp) variant of ITGB4 (Integrin beta-4)
G931D (p.Gly931Asp) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa, junctional 5A, intermediate. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
G931D (p.Gly931Asp) variant details
- p.Gly931Asp
- rs121912466
- ClinGen CA257308
- ClinVar RCV002051629
- UniProt VAR 011299
- Pathogenic
- Epidermolysis bullosa, junctional 5A, intermediate
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.99
- MetaLR 0.59
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Epidermolysis bullosa, junctional 5A, intermediate)
- EBI: Pathogenic (in JEB5A)
- UniProt: Pathogenic (in JEB5A)
- Structural context available
- Cited in: A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly… (PMID 10792571)
- Cited in: Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. (PMID 12485428)