G17R (p.Gly17Arg) variant of TUBB3 (Tubulin beta-3 chain)
G17R (p.Gly17Arg) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- rs778032071
- ClinGen CA8255884
- ClinVar RCV003689760
- ExAC rs778032071
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.78
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available