G148R (p.Gly148Arg) variant of TUBA1A (Tubulin alpha-1A chain)
G148R (p.Gly148Arg) 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 0.72 / 1. The record also includes published literature and structural context.
G148R (p.Gly148Arg) variant details
- p.Gly148Arg
- rs2121244979
- ClinGen CA384642585
- ClinVar RCV001706803
- Ensembl rs2121244979
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- AlphaMissense 1.00
- MetaLR 0.63
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.75
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)