G141C (p.Gly141Cys) variant of TUBB2B (Tubulin beta-2B chain)
G141C (p.Gly141Cys) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G141C (p.Gly141Cys) variant details
- p.Gly141Cys
- gnomAD rs1412515838
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.82
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.98
- CADD 26.90
- PolyPhen-2 0.30
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available