N18Y (p.Asn18Tyr) variant of TUBA1A (Tubulin alpha-1A chain)
N18Y (p.Asn18Tyr) 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 record also includes published literature and structural context.
N18Y (p.Asn18Tyr) variant details
- p.Asn18Tyr
- rs2498863626
- ClinGen CA384645994
- ClinVar RCV003883312
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)