R2H (p.Arg2His) variant of TUBA1A (Tubulin alpha-1A chain)
R2H (p.Arg2His) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodevelopmental disorder; Tubulinopathy-associated dysgyria; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
R2H (p.Arg2His) variant details
- p.Arg2His
- rs587784491
- ClinGen CA204630
- ClinVar RCV000147815
- ClinVar RCV000190671
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder; Tubulinopathy-associated dysgyria; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- AlphaMissense 0.99
- MetaLR 0.41
- MetaSVM -0.07
- PolyPhen-2 0.81
- SIFT 0.01
- MutPred 0.58
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder; Tubulinopathy-associated dysgyria;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an… (PMID 34211152)