R320C (p.Arg320Cys) variant of TUBA1A (Tubulin alpha-1A chain)
R320C (p.Arg320Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
R320C (p.Arg320Cys) variant details
- p.Arg320Cys
- rs1942168488
- ClinGen CA384637833
- cosmic curated COSV10962
- ClinVar RCV001072149
- Pathogenic/Likely pathogenic
- Lissencephaly due to TUBA1A mutation; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.90
- PolyPhen-2 0.82
- SIFT 0.00
- MutPred 0.72
- ClinVar: Pathogenic/Likely pathogenic (Lissencephaly due to TUBA1A mutation; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)