R422H (p.Arg422His) variant of TUBA1A (Tubulin alpha-1A chain)
R422H (p.Arg422His) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
R422H (p.Arg422His) variant details
- p.Arg422His
- rs137853050
- ClinGen CA213166
- cosmic curated COSV99853
- ClinVar RCV000007493
- Pathogenic
- Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 1.00
- MetaLR 0.69
- MetaSVM 0.56
- PolyPhen-2 0.22
- SIFT 0.00
- MutPred 0.86
- ClinVar: Pathogenic (Tubulinopathy; not provided; Lissencephaly due to TUBA1A mutatio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. (PMID 18954413)
- Cited in: Tubulinopathies Overview. (PMID 27010057)