N101K (p.Asn101Lys) variant of TUBA1A (Tubulin alpha-1A chain)
N101K (p.Asn101Lys) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital bilateral perisylvian syndrome. The record also includes structural context.
N101K (p.Asn101Lys) variant details
- p.Asn101Lys
- rs2498862449
- ClinGen CA384643364
- ClinVar RCV003445288
- Pathogenic
- Congenital bilateral perisylvian syndrome
- Missense
- ClinVar: Pathogenic (Congenital bilateral perisylvian syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available