Q11H (p.Gln11His) variant of TUBB3 (Tubulin beta-3 chain)
Q11H (p.Gln11His) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked hydrocephalus syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q11H (p.Gln11His) variant details
- p.Gln11His
- rs2144399284
- ClinGen CA397467036
- ClinVar RCV001723250
- Ensembl rs2144399284
- Uncertain significance
- X-linked hydrocephalus syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.63
- CADD 26.10
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (X-linked hydrocephalus syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: L1 Syndrome. (PMID 20301657)