P2T (p.Pro2Thr) variant of CCNE1 (G1/S-specific cyclin-E1)
P2T (p.Pro2Thr) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P2T (p.Pro2Thr) variant details
- p.Pro2Thr
- gnomAD 19-29812559-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.07
- CADD 25.20
- PolyPhen-2 0.77
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available