E34Q (p.Glu34Gln) variant of CCND2 (G1/S-specific cyclin-D2)
E34Q (p.Glu34Gln) in CCND2 (G1/S-specific cyclin-D2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
E34Q (p.Glu34Gln) variant details
- p.Glu34Gln
- rs2120513661
- ClinGen CA383661631
- ClinVar RCV002473969
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 1.00
- MetaLR 0.21
- MetaSVM -0.44
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.74
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available