C129Y (p.Cys129Tyr) variant of TUBB3 (Tubulin beta-3 chain)
C129Y (p.Cys129Tyr) in TUBB3 (Tubulin beta-3 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 0.58 / 1. The record also includes structural context.
C129Y (p.Cys129Tyr) variant details
- p.Cys129Tyr
- rs2151092738
- ClinGen CA397474352
- ClinVar RCV001765377
- Ensembl rs2151092738
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- AlphaMissense 0.90
- MetaLR 0.53
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available