C124S (p.Cys124Ser) variant of TUBB3 (Tubulin beta-3 chain)
C124S (p.Cys124Ser) 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 TUBB3-related tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
C124S (p.Cys124Ser) variant details
- p.Cys124Ser
- rs2544627184
- ClinGen CA397474314
- ClinVar RCV003983793
- Uncertain significance
- TUBB3-related tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (TUBB3-related tubulinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available