G17V (p.Gly17Val) variant of TUBB3 (Tubulin beta-3 chain)
G17V (p.Gly17Val) 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 0.69 / 1. The record also includes population frequency data and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- rs2544615257
- ClinGen CA397467184
- ClinVar RCV003159445
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.74
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available