G17D (p.Gly17Asp) variant of TUBA1A (Tubulin alpha-1A chain)
G17D (p.Gly17Asp) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cerebral palsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- rs2121248568
- ClinGen CA384646007
- ClinVar RCV001796561
- Ensembl rs2121248568
- Pathogenic
- Cerebral palsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.68
- ClinVar: Pathogenic (Cerebral palsy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available