G71A (p.Gly71Ala) variant of TUBB3 (Tubulin beta-3 chain)
G71A (p.Gly71Ala) 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 0.50 / 1. The record also includes structural context.
G71A (p.Gly71Ala) variant details
- p.Gly71Ala
- rs2151092293
- ClinGen CA397471269
- ClinVar RCV001817699
- Ensembl rs2151092293
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.80
- MetaLR 0.49
- MetaSVM -0.00
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.35
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available