G12V (p.Gly12Val) variant of GJB2 (Gap junction beta-2 protein)
G12V (p.Gly12Val) 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 Rare genetic deafness; Knuckle pads, deafness AND leukonychia syndrome; Mutilati. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- rs1801002
- ClinGen CA172228
- ClinVar RCV000020570
- ClinVar RCV000146020
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Knuckle pads, deafness AND leukonychia syndrome; Mutilati
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.10
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Knuckle pads, deafness AND leukonychia sy)
- EBI: Pathogenic (in KIDAD)
- UniProt: Pathogenic (in KIDAD)
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)