E69K (p.Glu69Lys) variant of CCND3 (G1/S-specific cyclin-D3)
E69K (p.Glu69Lys) in CCND3 (G1/S-specific cyclin-D3) is a missense change. Clinical records from ClinVar 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 0.54 / 1. The record also includes population frequency data and structural context.
E69K (p.Glu69Lys) variant details
- p.Glu69Lys
- ESP rs141840041
- TOPMed rs141840041
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.34
- CADD 31.00
- PolyPhen-2 0.87
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available