D41E (p.Asp41Glu) variant of TUBB2B (Tubulin beta-2B chain)
D41E (p.Asp41Glu) 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 0.34 / 1. The record also includes structural context.
D41E (p.Asp41Glu) variant details
- p.Asp41Glu
- rs748385221
- ClinGen CA362589899
- ClinVar RCV002279011
- ExAC rs748385221
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.24
- MetaLR 0.13
- MetaSVM -1.00
- PolyPhen-2 0.00
- EVE 0.22
- MutPred 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available