C200R (p.Cys200Arg) variant of TUBA1A (Tubulin alpha-1A chain)
C200R (p.Cys200Arg) 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 0.66 / 1. The record also includes published literature and structural context.
C200R (p.Cys200Arg) variant details
- p.Cys200Arg
- rs1942172759
- ClinGen CA384641487
- ClinVar RCV001072147
- Ensembl rs1942172759
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- AlphaMissense 1.00
- MetaLR 0.63
- MetaSVM 0.37
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.65
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)