F104L (p.Phe104Leu) variant of SLC4A1 (Band 3 anion transport protein)
F104L (p.Phe104Leu) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
F104L (p.Phe104Leu) variant details
- p.Phe104Leu
- TOPMed rs2047435564
- gnomAD rs2047435564
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.42
- CADD 24.40
- PolyPhen-2 0.35
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available