G142R (p.Gly142Arg) variant of TUBB2B (Tubulin beta-2B chain)
G142R (p.Gly142Arg) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G142R (p.Gly142Arg) variant details
- p.Gly142Arg
- ExAC rs774873878
- gnomAD rs774873878
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.92
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.11
- CADD 26.90
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available