V68A (p.Val68Ala) variant of TUBA1A (Tubulin alpha-1A chain)
V68A (p.Val68Ala) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lissencephaly due to TUBA1A mutation. The record also includes published literature and structural context.
V68A (p.Val68Ala) variant details
- p.Val68Ala
- rs2498863271
- ClinGen CA384644802
- ClinVar RCV003993637
- Uncertain significance
- Lissencephaly due to TUBA1A mutation
- Missense
- ClinVar: Uncertain significance (Lissencephaly due to TUBA1A mutation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)