V35E (p.Val35Glu) variant of CCNE1 (G1/S-specific cyclin-E1)
V35E (p.Val35Glu) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V35E (p.Val35Glu) variant details
- p.Val35Glu
- gnomAD 19-29812769-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.23
- MetaLR 0.22
- MetaSVM -0.74
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available