V324L (p.Val324Leu) variant of TUBA1A (Tubulin alpha-1A chain)
V324L (p.Val324Leu) 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; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
V324L (p.Val324Leu) variant details
- p.Val324Leu
- rs797046073
- ClinGen CA213342
- ClinVar RCV000194600
- ClinVar RCV000767447
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.93
- MetaLR 0.70
- MetaSVM 0.45
- PolyPhen-2 0.06
- SIFT 0.00
- MutPred 0.55
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation; Tubulinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)