R14G (p.Arg14Gly) variant of CCND1 (G1/S-specific cyclin-D1)
R14G (p.Arg14Gly) in CCND1 (G1/S-specific cyclin-D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- gnomAD 11-69641353-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.18
- MetaLR 0.03
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available