E386K (p.Glu386Lys) variant of TUBA1A (Tubulin alpha-1A chain)
E386K (p.Glu386Lys) 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 0.80 / 1. The record also includes published literature and structural context.
E386K (p.Glu386Lys) variant details
- p.Glu386Lys
- rs1942164890
- ClinGen CA384635254
- cosmic curated COSV10734
- ClinVar RCV001329517
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.96
- MetaLR 0.78
- MetaSVM 0.71
- PolyPhen-2 0.83
- SIFT 0.00
- MutPred 0.68
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)