R3S (p.Arg3Ser) variant of CCNE1 (G1/S-specific cyclin-E1)
R3S (p.Arg3Ser) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- gnomAD 19-29812564-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.05
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available