T55N (p.Thr55Asn) variant of GJB2 (Gap junction beta-2 protein)
T55N (p.Thr55Asn) in GJB2 (Gap junction beta-2 protein) is a missense change. The available record places it in the context of Autosomal dominant nonsyndromic hearing loss 3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
T55N (p.Thr55Asn) variant details
- p.Thr55Asn
- rs1064797089
- ClinGen CA16621540
- ClinVar RCV000487478
- Ensembl rs1064797089
- not provided
- Autosomal dominant nonsyndromic hearing loss 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.85
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: not provided (Autosomal dominant nonsyndromic hearing loss 3A)
- UniProt: Not provided
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)