R29K (p.Arg29Lys) variant of CCNE1 (G1/S-specific cyclin-E1)
R29K (p.Arg29Lys) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R29K (p.Arg29Lys) variant details
- p.Arg29Lys
- gnomAD 19-29812751-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.14
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available