N14D (p.Asn14Asp) variant of GJB2 (Gap junction beta-2 protein)
N14D (p.Asn14Asp) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
N14D (p.Asn14Asp) variant details
- p.Asn14Asp
- rs1476034902
- ClinGen CA387462206
- ClinVar RCV001204537
- ClinVar RCV004768913
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.87
- MetaLR 0.97
- MetaSVM 1.08
- CADD 25.90
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)