R31W (p.Arg31Trp) variant of EZH1 (Q92800)
R31W (p.Arg31Trp) in EZH1 (Q92800) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R31W (p.Arg31Trp) variant details
- p.Arg31Trp
- ExAC rs765876793
- TOPMed rs765876793
- gnomAD rs765876793
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.69
- CADD 25.30
- PolyPhen-2 0.18
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available