R2H (p.Arg2His) variant of TUBB2B (Tubulin beta-2B chain)
R2H (p.Arg2His) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
R2H (p.Arg2His) variant details
- p.Arg2His
- rs2113820430
- ClinGen CA362590450
- ClinVar RCV001819207
- Ensembl rs2113820430
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- AlphaMissense 1.00
- MetaLR 0.58
- MetaSVM 0.40
- PolyPhen-2 1.00
- MutPred 0.49
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available