R13Q (p.Arg13Gln) variant of CCNE1 (G1/S-specific cyclin-E1)
R13Q (p.Arg13Gln) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
R13Q (p.Arg13Gln) variant details
- p.Arg13Gln
- TOPMed rs1244850159
- gnomAD rs1244850159
- Missense
- Variant Prioritization Score for Impact Estimate 0.0734
- REVEL 0.03
- CADD 8.82
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available