H107Q (p.His107Gln) variant of TUBA1A (Tubulin alpha-1A chain)
H107Q (p.His107Gln) 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 0.63 / 1. The record also includes published literature and structural context.
H107Q (p.His107Gln) variant details
- p.His107Gln
- rs1565627513
- ClinGen CA384643261
- ClinVar RCV000681646
- Ensembl rs1565627513
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- AlphaMissense 0.99
- MetaLR 0.61
- MetaSVM 0.25
- PolyPhen-2 0.91
- SIFT 0.00
- MutPred 0.72
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)