E44K (p.Glu44Lys) variant of CCNE1 (G1/S-specific cyclin-E1)
E44K (p.Glu44Lys) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- Ensembl rs1973930626
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.18
- CADD 33.00
- PolyPhen-2 0.79
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available