P2Q (p.Pro2Gln) variant of CCNE1 (G1/S-specific cyclin-E1)
P2Q (p.Pro2Gln) 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 and structural context.
P2Q (p.Pro2Gln) variant details
- p.Pro2Gln
- Ensembl rs1599594280
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.04
- CADD 24.70
- PolyPhen-2 0.19
- SIFT 0.00
- Population evidence available
- Structural context available