E122G (p.Glu122Gly) variant of CCND3 (G1/S-specific cyclin-D3)
E122G (p.Glu122Gly) in CCND3 (G1/S-specific cyclin-D3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E122G (p.Glu122Gly) variant details
- p.Glu122Gly
- rs147998619
- ClinGen CA3804294
- ClinVar RCV004189877
- ESP rs147998619
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.26
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0002)
- Structural context available