D179H (p.Asp179His) variant of GJB2 (Gap junction beta-2 protein)
D179H (p.Asp179His) 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; Mutilating keratoderma; Ichthy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
D179H (p.Asp179His) variant details
- p.Asp179His
- rs28931595
- ClinGen CA387460951
- ClinVar RCV000665713
- ClinVar RCV001855444
- Conflicting interpretations
- Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthy
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.96
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.09
- CADD 27.30
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive nonsyndromic hearing loss 1A; Mutilating ker)
- EBI: Pathogenic (in DFNA3A)
- UniProt: Pathogenic (in DFNA3A)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)