R5H (p.Arg5His) variant of CCNE1 (G1/S-specific cyclin-E1)
R5H (p.Arg5His) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- TOPMed rs1014086924
- gnomAD rs1014086924
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.06
- CADD 24.80
- PolyPhen-2 0.21
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available