E9Q (p.Glu9Gln) variant of CCND1 (G1/S-specific cyclin-D1)
E9Q (p.Glu9Gln) in CCND1 (G1/S-specific cyclin-D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E9Q (p.Glu9Gln) variant details
- p.Glu9Gln
- Ensembl rs2120079775
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.28
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available