R27S (p.Arg27Ser) variant of CCNE1 (G1/S-specific cyclin-E1)
R27S (p.Arg27Ser) 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, published literature, and structural context.
R27S (p.Arg27Ser) variant details
- p.Arg27Ser
- gnomAD 19-29812744-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.18
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available