G13A (p.Gly13Ala) variant of TUBA1A (Tubulin alpha-1A chain)
G13A (p.Gly13Ala) in TUBA1A (Tubulin alpha-1A 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 0.91 / 1. The record also includes structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- rs2121248621
- ClinGen CA384646089
- ClinVar RCV001816116
- Ensembl rs2121248621
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available