A421T (p.Ala421Thr) variant of TUBA1A (Tubulin alpha-1A chain)
A421T (p.Ala421Thr) 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 0.85 / 1. The record also includes published literature and structural context.
A421T (p.Ala421Thr) variant details
- p.Ala421Thr
- rs1592259391
- ClinGen CA384633919
- ClinVar RCV000988844
- Ensembl rs1592259391
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 1.03
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.48
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)