E65Q (p.Glu65Gln) variant of CCND2 (G1/S-specific cyclin-D2)
E65Q (p.Glu65Gln) in CCND2 (G1/S-specific cyclin-D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E65Q (p.Glu65Gln) variant details
- p.Glu65Gln
- gnomAD rs1234478843
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.28
- MetaLR 0.04
- MetaSVM -1.10
- CADD 29.70
- PolyPhen-2 0.43
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available