R27C (p.Arg27Cys) variant of CCNE1 (G1/S-specific cyclin-E1)
R27C (p.Arg27Cys) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R27C (p.Arg27Cys) variant details
- p.Arg27Cys
- rs776712074
- NCI-TCGA Cosmic COSV5290
- cosmic curated COSV52904
- ExAC rs776712074
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.27
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 8.5e-05)
- Structural context available