G71R (p.Gly71Arg) variant of TUBB3 (Tubulin beta-3 chain)
G71R (p.Gly71Arg) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of TUBB3-related tubulinopathy; not provided; Complex cortical dysplasia with other. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G71R (p.Gly71Arg) variant details
- p.Gly71Arg
- rs864321715
- ClinGen CA347960
- NCI-TCGA Cosmic COSV5924
- cosmic curated COSV59247
- Pathogenic/Likely pathogenic
- TUBB3-related tubulinopathy; not provided; Complex cortical dysplasia with other
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.63
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (TUBB3-related tubulinopathy; not provided; Complex cortical dysp)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)