G132S (p.Gly132Ser) variant of TUBB2B (Tubulin beta-2B chain)
G132S (p.Gly132Ser) 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 0.76 / 1. The record also includes structural context.
G132S (p.Gly132Ser) variant details
- p.Gly132Ser
- rs1554126928
- ClinGen CA362588934
- ClinVar RCV000522271
- Ensembl rs1554126928
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- AlphaMissense 1.00
- MetaLR 0.64
- MetaSVM 0.53
- PolyPhen-2 1.00
- EVE 0.97
- MutPred 0.82
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available