D46N (p.Asp46Asn) variant of GJB2 (Gap junction beta-2 protein)
D46N (p.Asp46Asn) 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 0.94 / 1. The record also includes published literature and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- rs1064797088
- ClinGen CA16621541
- ClinVar RCV000487475
- ClinVar RCV003558394
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.78
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic (in DFNA3A)
- UniProt: Pathogenic (in DFNA3A)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)