R2K (p.Arg2Lys) variant of TUBB3 (Tubulin beta-3 chain)
R2K (p.Arg2Lys) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Complex cortical dysplasia with other brain malformations 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R2K (p.Arg2Lys) variant details
- p.Arg2Lys
- rs2544615173
- ClinGen CA397466776
- ClinVar RCV003038132
- ClinVar RCV003322637
- Conflicting interpretations
- not provided; Complex cortical dysplasia with other brain malformations 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.33
- CADD 25.00
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Complex cortical dysplasia with other brain malfor)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)