N249S (p.Asn249Ser) variant of TUBA1A (Tubulin alpha-1A chain)
N249S (p.Asn249Ser) 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 0.65 / 1. The record also includes published literature and structural context.
N249S (p.Asn249Ser) variant details
- p.Asn249Ser
- rs1942171146
- ClinGen CA384640130
- ClinVar RCV001072148
- Ensembl rs1942171146
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.94
- MetaLR 0.69
- MetaSVM 0.37
- PolyPhen-2 0.11
- SIFT 0.01
- MutPred 0.73
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)