V37I (p.Val37Ile) variant of CCNE1 (G1/S-specific cyclin-E1)
V37I (p.Val37Ile) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V37I (p.Val37Ile) variant details
- p.Val37Ile
- rs774836905
- ExAC rs774836905
- TOPMed rs774836905
- gnomAD rs774836905
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.06
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.78
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.7e-05)
- Structural context available