V47L (p.Val47Leu) variant of CCND2 (G1/S-specific cyclin-D2)
V47L (p.Val47Leu) in CCND2 (G1/S-specific cyclin-D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V47L (p.Val47Leu) variant details
- p.Val47Leu
- gnomAD rs1449067414
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.23
- MetaLR 0.07
- MetaSVM -1.14
- CADD 29.10
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available