D50Y (p.Asp50Tyr) variant of GJB2 (Gap junction beta-2 protein)
D50Y (p.Asp50Tyr) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
D50Y (p.Asp50Tyr) variant details
- p.Asp50Tyr
- rs28931594
- ClinGen CA127031
- ClinVar RCV000018556
- UniProt VAR 015935
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.62
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic (in KIDAD)
- UniProt: Pathogenic (in KIDAD)
- Structural context available
- Cited in: Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. (PMID 12752120)
- Cited in: Two patients with severe corneal disease in KID syndrome. (PMID 14700667)