N101S (p.Asn101Ser) variant of TUBA1A (Tubulin alpha-1A chain)
N101S (p.Asn101Ser) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
N101S (p.Asn101Ser) variant details
- p.Asn101Ser
- rs1565627526
- ClinGen CA384643366
- ClinVar RCV000767494
- ClinVar RCV002290012
- Pathogenic/Likely pathogenic
- Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 0.10
- MetaLR 0.53
- MetaSVM 0.25
- SIFT 0.00
- MutPred 0.26
- ClinVar: Pathogenic/Likely pathogenic (Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provide)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)