R5L (p.Arg5Leu) variant of CCNE1 (G1/S-specific cyclin-E1)
R5L (p.Arg5Leu) 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 0.17 / 1. The record also includes population frequency data and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- TOPMed rs1014086924
- gnomAD rs1014086924
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.05
- CADD 24.90
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available