R2M (p.Arg2Met) variant of TUBB3 (Tubulin beta-3 chain)
R2M (p.Arg2Met) 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 0.54 / 1. The record also includes population frequency data and structural context.
R2M (p.Arg2Met) variant details
- p.Arg2Met
- rs2544615173
- ClinGen CA397466785
- ClinVar RCV003578817
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.48
- CADD 31.00
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available