R12L (p.Arg12Leu) variant of CCND2 (G1/S-specific cyclin-D2)
R12L (p.Arg12Leu) in CCND2 (G1/S-specific cyclin-D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- gnomAD 12-4274075-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.11
- MetaLR 0.02
- MetaSVM -0.93
- CADD 24.00
- PolyPhen-2 0.06
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available