F104L (p.Phe104Leu) variant of SF3B1 (Splicing factor 3B subunit 1)
F104L (p.Phe104Leu) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F104L (p.Phe104Leu) variant details
- p.Phe104Leu
- gnomAD rs1299660208
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.37
- CADD 22.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available