R320H (p.Arg320His) variant of TUBA1A (Tubulin alpha-1A chain)
R320H (p.Arg320His) 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 Lissencephaly due to TUBA1A mutation; TUBA1A-related disorder; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
R320H (p.Arg320His) variant details
- p.Arg320His
- rs1555162323
- ClinGen CA384637808
- NCI-TCGA Cosmic COSV9985
- cosmic curated COSV99853
- Pathogenic/Likely pathogenic
- Lissencephaly due to TUBA1A mutation; TUBA1A-related disorder; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- AlphaMissense 0.99
- MetaLR 0.66
- MetaSVM 0.40
- PolyPhen-2 0.66
- SIFT 0.01
- MutPred 0.70
- ClinVar: Pathogenic/Likely pathogenic (Lissencephaly due to TUBA1A mutation; TUBA1A-related disorder; T)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)