V409I (p.Val409Ile) variant of TUBA1A (Tubulin alpha-1A chain)
V409I (p.Val409Ile) 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 Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
V409I (p.Val409Ile) variant details
- p.Val409Ile
- rs1565626928
- ClinGen CA384634444
- ClinVar RCV000767481
- ClinVar RCV001547766
- Pathogenic/Likely pathogenic
- Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- AlphaMissense 0.73
- MetaLR 0.57
- MetaSVM 0.01
- PolyPhen-2 0.02
- SIFT 0.00
- MutPred 0.64
- ClinVar: Pathogenic/Likely pathogenic (Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutatio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)