V13G (p.Val13Gly) variant of GJB2 (Gap junction beta-2 protein)
V13G (p.Val13Gly) 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 0.82 / 1. The record also includes structural context.
V13G (p.Val13Gly) variant details
- p.Val13Gly
- rs1593351795
- ClinGen CA387462207
- ClinVar RCV001001343
- Ensembl rs1593351795
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 0.72
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available