R57K (p.Arg57Lys) variant of CCND2 (G1/S-specific cyclin-D2)
R57K (p.Arg57Lys) in CCND2 (G1/S-specific cyclin-D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R57K (p.Arg57Lys) variant details
- p.Arg57Lys
- gnomAD 12-4274210-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.18
- CADD 23.70
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available