F38L (p.Phe38Leu) variant of CCNE1 (G1/S-specific cyclin-E1)
F38L (p.Phe38Leu) 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 0.28 / 1. The record also includes population frequency data and structural context.
F38L (p.Phe38Leu) variant details
- p.Phe38Leu
- rs772724283
- ClinGen CA9352140
- ClinVar RCV004104704
- ExAC rs772724283
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.04
- CADD 24.90
- PolyPhen-2 0.14
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available