G82V (p.Gly82Val) variant of TUBB2B (Tubulin beta-2B chain)
G82V (p.Gly82Val) 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 0.82 / 1. The record also includes structural context.
G82V (p.Gly82Val) variant details
- p.Gly82Val
- rs1064797320
- ClinGen CA16621833
- ClinVar RCV000487738
- Ensembl rs1064797320
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.80
- PolyPhen-2 0.98
- EVE 0.99
- MutPred 0.77
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available