R8R (p.Arg8Arg) variant of CCNE1 (G1/S-specific cyclin-E1)
R8R (p.Arg8Arg) in CCNE1 (G1/S-specific cyclin-E1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- rs765558494
- gnomAD 19-29812577-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 17.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available