N18I (p.Asn18Ile) variant of TUBA1A (Tubulin alpha-1A chain)
N18I (p.Asn18Ile) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
N18I (p.Asn18Ile) variant details
- p.Asn18Ile
- rs1064795213
- ClinGen CA384645977
- ClinVar RCV001986359
- Ensembl rs1064795213
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- AlphaMissense 0.90
- MetaLR 0.67
- MetaSVM 0.64
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.68
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available