E42D (p.Glu42Asp) variant of GJB2 (Gap junction beta-2 protein)
E42D (p.Glu42Asp) 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 provided; not specified; Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E42D (p.Glu42Asp) variant details
- p.Glu42Asp
- rs535635403
- ClinGen CA6904314
- ClinVar RCV001810543
- ClinVar RCV002541486
- Conflicting interpretations
- not provided; not specified; Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.34
- MetaLR 0.81
- MetaSVM 0.24
- CADD 13.20
- PolyPhen-2 0.08
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Autosomal recessive nonsyndromic he)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)