I30V (p.Ile30Val) variant of GJB2 (Gap junction beta-2 protein)
I30V (p.Ile30Val) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Autosomal dominant nonsyndromic hearing loss 3A; X-linked mixed h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
I30V (p.Ile30Val) variant details
- p.Ile30Val
- rs374625633
- ClinGen CA6904323
- ClinVar RCV000672312
- ClinVar RCV002298731
- Uncertain significance
- not specified; Autosomal dominant nonsyndromic hearing loss 3A; X-linked mixed h
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.70
- AlphaMissense 0.20
- MetaLR 0.93
- MetaSVM 0.98
- CADD 20.60
- PolyPhen-2 0.04
- ClinVar: Uncertain significance (not specified; Autosomal dominant nonsyndromic hearing loss 3A;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)