R5S (p.Arg5Ser) variant of CCNE1 (G1/S-specific cyclin-E1)
R5S (p.Arg5Ser) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- gnomAD 19-29812568-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.06
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available