C8G (p.Cys8Gly) variant of CCND1 (G1/S-specific cyclin-D1)
C8G (p.Cys8Gly) in CCND1 (G1/S-specific cyclin-D1) is a missense change. 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.
C8G (p.Cys8Gly) variant details
- p.Cys8Gly
- ExAC rs773884084
- gnomAD rs773884084
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.33
- CADD 24.80
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available