L68V (p.Leu68Val) variant of TUBB2B (Tubulin beta-2B chain)
L68V (p.Leu68Val) 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 0.70 / 1. The record also includes structural context.
L68V (p.Leu68Val) variant details
- p.Leu68Val
- rs2113819569
- ClinGen CA362589709
- ClinVar RCV001760671
- Ensembl rs2113819569
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.98
- MetaLR 0.66
- MetaSVM 0.38
- PolyPhen-2 0.22
- EVE 0.99
- MutPred 0.73
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available