R2S (p.Arg2Ser) variant of TUBB2B (Tubulin beta-2B chain)
R2S (p.Arg2Ser) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R2S (p.Arg2Ser) variant details
- p.Arg2Ser
- rs1581526962
- ClinGen CA362590453
- ClinVar RCV000985023
- ClinVar RCV003238824
- Pathogenic
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.71
- CADD 29.80
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)