R8W (p.Arg8Trp) variant of CCNE1 (G1/S-specific cyclin-E1)
R8W (p.Arg8Trp) in CCNE1 (G1/S-specific cyclin-E1) 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 0.25 / 1. The record also includes population frequency data and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- 1000Genomes rs765558494
- ExAC rs765558494
- TOPMed rs765558494
- gnomAD rs765558494
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.16
- CADD 29.10
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0068)
- Structural context available