L45F (p.Leu45Phe) variant of CDKN2A (Tumor suppressor ARF)
L45F (p.Leu45Phe) in CDKN2A (Tumor suppressor ARF) 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 0.33 / 1. The record also includes population frequency data and structural context.
L45F (p.Leu45Phe) variant details
- p.Leu45Phe
- TOPMed rs1554659193
- gnomAD rs1554659193
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 25.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available