G82S (p.Gly82Ser) variant of TUBB2B (Tubulin beta-2B chain)
G82S (p.Gly82Ser) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G82S (p.Gly82Ser) variant details
- p.Gly82Ser
- rs766214058
- ClinGen CA3619230
- ClinVar RCV002473418
- ExAC rs766214058
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- AlphaMissense 0.83
- MetaLR 0.42
- MetaSVM -0.19
- PolyPhen-2 0.16
- EVE 0.61
- MutPred 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available