V60F (p.Val60Phe) variant of TUBB2B (Tubulin beta-2B chain)
V60F (p.Val60Phe) 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 0.42 / 1. The record also includes structural context.
V60F (p.Val60Phe) variant details
- p.Val60Phe
- rs2113819578
- ClinGen CA362589756
- ClinVar RCV003886895
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.27
- MetaLR 0.27
- MetaSVM -0.54
- PolyPhen-2 0.00
- EVE 0.51
- MutPred 0.74
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available