Q11K (p.Gln11Lys) variant of TUBB3 (Tubulin beta-3 chain)
Q11K (p.Gln11Lys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Q11K (p.Gln11Lys) variant details
- p.Gln11Lys
- rs2544615220
- ClinGen CA397467006
- ClinVar RCV003716704
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.69
- CADD 24.80
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available