R5C (p.Arg5Cys) variant of CCNE1 (G1/S-specific cyclin-E1)
R5C (p.Arg5Cys) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- Ensembl rs2145714565
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.16
- CADD 25.10
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available