E4K (p.Glu4Lys) variant of CCNE1 (G1/S-specific cyclin-E1)
E4K (p.Glu4Lys) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- gnomAD 19-29812565-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.05
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available