P42L (p.Pro42Leu) variant of CCNE1 (G1/S-specific cyclin-E1)
P42L (p.Pro42Leu) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- ESP rs146376659
- ExAC rs146376659
- TOPMed rs146376659
- gnomAD rs146376659
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.08
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available