Q15K (p.Gln15Lys) variant of TUBB2B (Tubulin beta-2B chain)
Q15K (p.Gln15Lys) in TUBB2B (Tubulin beta-2B 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 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Q15K (p.Gln15Lys) variant details
- p.Gln15Lys
- rs1085307566
- ClinGen CA362590362
- ClinVar RCV000489377
- ClinVar RCV000515493
- Conflicting interpretations
- not provided; Complex cortical dysplasia with other brain malformations 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.59
- CADD 25.30
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Complex cortical dysplasia with other brain malfor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)