N100Y (p.Asn100Tyr) variant of TUBB2B (Tubulin beta-2B chain)
N100Y (p.Asn100Tyr) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lissencephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
N100Y (p.Asn100Tyr) variant details
- p.Asn100Tyr
- rs1757279879
- ClinGen CA362589434
- ClinVar RCV001291307
- Ensembl rs1757279879
- Likely pathogenic
- Lissencephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 0.99
- MetaLR 0.78
- MetaSVM 0.94
- PolyPhen-2 1.00
- EVE 0.97
- MutPred 0.82
- ClinVar: Likely pathogenic (Lissencephaly)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available