V52I (p.Val52Ile) variant of GJB6 (Gap junction beta-6 protein)
V52I (p.Val52Ile) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V52I (p.Val52Ile) variant details
- p.Val52Ile
- cosmic curated COSV53832
- ESP rs143410202
- ExAC rs143410202
- TOPMed rs143410202
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available