E69K (p.Glu69Lys) variant of CCND2 (G1/S-specific cyclin-D2)
E69K (p.Glu69Lys) in CCND2 (G1/S-specific cyclin-D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E69K (p.Glu69Lys) variant details
- p.Glu69Lys
- gnomAD 12-4276014-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.35
- CADD 32.00
- PolyPhen-2 0.50
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available