L397P (p.Leu397Pro) variant of TUBA1A (Tubulin alpha-1A chain)
L397P (p.Leu397Pro) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tubulinopathy; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
L397P (p.Leu397Pro) variant details
- p.Leu397Pro
- rs137853048
- ClinGen CA213162
- ClinVar RCV000007491
- ClinVar RCV000767468
- Pathogenic
- Tubulinopathy; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.60
- PolyPhen-2 0.25
- SIFT 0.00
- MutPred 0.83
- ClinVar: Pathogenic (Tubulinopathy; Lissencephaly due to TUBA1A mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. (PMID 18728072)
- Cited in: Tubulinopathies Overview. (PMID 27010057)