C5F (p.Cys5Phe) variant of CCND2 (G1/S-specific cyclin-D2)
C5F (p.Cys5Phe) in CCND2 (G1/S-specific cyclin-D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
C5F (p.Cys5Phe) variant details
- p.Cys5Phe
- ExAC rs745641213
- gnomAD rs745641213
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.56
- MetaLR 0.13
- MetaSVM -0.76
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available