P2L (p.Pro2Leu) variant of CCNE1 (G1/S-specific cyclin-E1)
P2L (p.Pro2Leu) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- Ensembl rs1599594280
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.07
- CADD 29.20
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available