V178A (p.Val178Ala) variant of GJB2 (Gap junction beta-2 protein)
V178A (p.Val178Ala) 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 Nonsyndromic genetic hearing loss; not provided; Autosomal recessive nonsyndromi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
V178A (p.Val178Ala) variant details
- p.Val178Ala
- rs568612627
- ClinGen CA6904243
- ClinVar RCV000665870
- ClinVar RCV001218684
- Pathogenic/Likely pathogenic
- Nonsyndromic genetic hearing loss; not provided; Autosomal recessive nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.98
- MetaLR 0.97
- MetaSVM 1.09
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Nonsyndromic genetic hearing loss; not provided; Autosomal reces)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. (PMID 11439000)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)