P2A (p.Pro2Ala) variant of CCNE1 (G1/S-specific cyclin-E1)
P2A (p.Pro2Ala) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P2A (p.Pro2Ala) variant details
- p.Pro2Ala
- gnomAD 19-29812559-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.07
- CADD 25.10
- PolyPhen-2 0.51
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available