R13L (p.Arg13Leu) variant of CCNE1 (G1/S-specific cyclin-E1)
R13L (p.Arg13Leu) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- gnomAD 19-29812703-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0894
- REVEL 0.05
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available