M203I (p.Met203Ile) variant of TUBA1A (Tubulin alpha-1A chain)
M203I (p.Met203Ile) 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 0.38 / 1. The record also includes published literature and structural context.
M203I (p.Met203Ile) variant details
- p.Met203Ile
- rs2121244334
- ClinGen CA384641374
- ClinVar RCV001807687
- Ensembl rs2121244334
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.80
- MetaLR 0.26
- MetaSVM -0.67
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.55
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)