G4D (p.Gly4Asp) variant of GJB2 (Gap junction beta-2 protein)
G4D (p.Gly4Asp) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Ichthyosis, hystrix-like, with hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G4D (p.Gly4Asp) variant details
- p.Gly4Asp
- rs111033222
- ClinGen CA134947
- ClinVar RCV000037814
- ClinVar RCV000290549
- Conflicting interpretations
- not specified; not provided; Ichthyosis, hystrix-like, with hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.36
- MetaLR 0.90
- MetaSVM 0.69
- CADD 14.30
- PolyPhen-2 0.18
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Ichthyosis, hystrix-like, with hear)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)