I35S (p.Ile35Ser) variant of GJB2 (Gap junction beta-2 protein)
I35S (p.Ile35Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
I35S (p.Ile35Ser) variant details
- p.Ile35Ser
- rs756467247
- ClinGen CA6904320
- ClinVar RCV001544685
- ClinVar RCV003331179
- Pathogenic/Likely pathogenic
- Nonsyndromic genetic hearing loss; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.97
- MetaLR 0.98
- MetaSVM 1.08
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Nonsyndromic genetic hearing loss; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available