C8R (p.Cys8Arg) variant of CCND1 (G1/S-specific cyclin-D1)
C8R (p.Cys8Arg) 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, published literature, and structural context.
C8R (p.Cys8Arg) variant details
- p.Cys8Arg
- gnomAD 11-69641335-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.35
- MetaLR 0.04
- MetaSVM -1.13
- CADD 29.70
- PolyPhen-2 0.82
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available