R13W (p.Arg13Trp) variant of CCNE1 (G1/S-specific cyclin-E1)
R13W (p.Arg13Trp) 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 0.20 / 1. The record also includes population frequency data and structural context.
R13W (p.Arg13Trp) variant details
- p.Arg13Trp
- gnomAD rs1282484032
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.07
- CADD 23.60
- PolyPhen-2 0.18
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available