E68K (p.Glu68Lys) variant of CCND2 (G1/S-specific cyclin-D2)
E68K (p.Glu68Lys) in CCND2 (G1/S-specific cyclin-D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E68K (p.Glu68Lys) variant details
- p.Glu68Lys
- gnomAD rs1349838711
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.29
- MetaLR 0.09
- MetaSVM -0.99
- CADD 31.00
- PolyPhen-2 0.49
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00011)
- Structural context available