T73A (p.Thr73Ala) variant of TUBA1A (Tubulin alpha-1A chain)
T73A (p.Thr73Ala) 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 Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
T73A (p.Thr73Ala) variant details
- p.Thr73Ala
- rs1592260393
- ClinGen CA384644674
- cosmic curated COSV10588
- ClinVar RCV000850184
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.42
- MetaLR 0.33
- MetaSVM -0.46
- PolyPhen-2 0.00
- SIFT 0.04
- MutPred 0.44
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)