P307L (p.Pro307Leu) variant of TUBA1A (Tubulin alpha-1A chain)
P307L (p.Pro307Leu) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lissencephaly due to TUBA1A mutation; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
P307L (p.Pro307Leu) variant details
- p.Pro307Leu
- rs1555162325
- ClinGen CA384638385
- ClinVar RCV000656091
- ClinVar RCV000767520
- Pathogenic/Likely pathogenic
- Lissencephaly due to TUBA1A mutation; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.95
- MetaLR 0.82
- MetaSVM 0.92
- PolyPhen-2 0.82
- SIFT 0.00
- MutPred 0.75
- ClinVar: Pathogenic/Likely pathogenic (Lissencephaly due to TUBA1A mutation; Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)