G12D (p.Gly12Asp) variant of GJB2 (Gap junction beta-2 protein)
G12D (p.Gly12Asp) 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 Autosomal recessive nonsyndromic hearing loss 1A; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- rs1801002
- ClinGen CA6904330
- cosmic curated COSV10749
- ClinVar RCV000666230
- Conflicting interpretations
- Autosomal recessive nonsyndromic hearing loss 1A; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.88
- MetaLR 0.97
- MetaSVM 1.10
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive nonsyndromic hearing loss 1A; not provided;)
- EBI: Pathogenic (in KIDAD)
- UniProt: Pathogenic (in KIDAD)
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)