P10L (p.Pro10Leu) variant of CCND2 (G1/S-specific cyclin-D2)
P10L (p.Pro10Leu) in CCND2 (G1/S-specific cyclin-D2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- 1000Genomes rs200897111
- ExAC rs200897111
- TOPMed rs200897111
- gnomAD rs200897111
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.10
- MetaLR 0.02
- MetaSVM -1.01
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available