A273D (p.Ala273Asp) variant of TUBA1A (Tubulin alpha-1A chain)
A273D (p.Ala273Asp) 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 0.89 / 1. The record also includes published literature and structural context.
A273D (p.Ala273Asp) variant details
- p.Ala273Asp
- rs2121243396
- ClinGen CA384639505
- ClinVar RCV001824274
- Ensembl rs2121243396
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.06
- PolyPhen-2 0.85
- SIFT 0.00
- MutPred 0.70
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)