R27H (p.Arg27His) variant of CCNE1 (G1/S-specific cyclin-E1)
R27H (p.Arg27His) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- ExAC rs745919586
- TOPMed rs745919586
- gnomAD rs745919586
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.19
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.12
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available