V37L (p.Val37Leu) variant of CCNE1 (G1/S-specific cyclin-E1)
V37L (p.Val37Leu) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. Clinical records from ClinVar, EBI, 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 0.30 / 1. The record also includes population frequency data and structural context.
V37L (p.Val37Leu) variant details
- p.Val37Leu
- rs774836905
- ClinGen CA405261132
- ClinVar RCV004152193
- ExAC rs774836905
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.05
- CADD 24.70
- PolyPhen-2 0.08
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available