C7F (p.Cys7Phe) variant of CCND1 (G1/S-specific cyclin-D1)
C7F (p.Cys7Phe) in CCND1 (G1/S-specific cyclin-D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
C7F (p.Cys7Phe) variant details
- p.Cys7Phe
- gnomAD 11-69641333-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.49
- MetaLR 0.12
- MetaSVM -0.83
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available