S25L (p.Ser25Leu) variant of CCNE1 (G1/S-specific cyclin-E1)
S25L (p.Ser25Leu) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S25L (p.Ser25Leu) variant details
- p.Ser25Leu
- cosmic curated COSV52903
- ExAC rs771972554
- TOPMed rs771972554
- gnomAD rs771972554
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.17
- CADD 23.10
- PolyPhen-2 0.17
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.8e-05)
- Structural context available