E51Q (p.Glu51Gln) variant of CCND3 (G1/S-specific cyclin-D3)
E51Q (p.Glu51Gln) in CCND3 (G1/S-specific cyclin-D3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E51Q (p.Glu51Gln) variant details
- p.Glu51Gln
- ESP rs376321266
- TOPMed rs376321266
- gnomAD rs376321266
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.19
- CADD 28.00
- PolyPhen-2 0.88
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available