S19I (p.Ser19Ile) variant of GJB2 (Gap junction beta-2 protein)
S19I (p.Ser19Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
S19I (p.Ser19Ile) variant details
- p.Ser19Ile
- rs2500253355
- ClinGen CA2825002101
- ClinVar RCV004526452
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.82
- MetaLR 0.95
- MetaSVM 1.07
- CADD 25.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available