T107M (p.Thr107Met) variant of TUBB3 (Tubulin beta-3 chain)
T107M (p.Thr107Met) in TUBB3 (Tubulin beta-3 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 0.55 / 1. The record also includes population frequency data and structural context.
T107M (p.Thr107Met) variant details
- p.Thr107Met
- rs2030395720
- ClinGen CA397474204
- cosmic curated COSV59247
- ClinVar RCV002261560
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.70
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available