E53K (p.Glu53Lys) variant of TUBB3 (Tubulin beta-3 chain)
E53K (p.Glu53Lys) 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 0.65 / 1. The record also includes population frequency data and structural context.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- Ensembl rs2151092013
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.56
- CADD 26.10
- PolyPhen-2 0.65
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available