V35M (p.Val35Met) variant of CCNE1 (G1/S-specific cyclin-E1)
V35M (p.Val35Met) 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 0.48 / 1. The record also includes population frequency data and structural context.
V35M (p.Val35Met) variant details
- p.Val35Met
- ESP rs369751087
- ExAC rs369751087
- TOPMed rs369751087
- gnomAD rs369751087
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.23
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.5e-05)
- Structural context available