R80L (p.Arg80Leu) variant of SLC4A1 (Band 3 anion transport protein)
R80L (p.Arg80Leu) in SLC4A1 (Band 3 anion transport protein) 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 0.38 / 1. The record also includes population frequency data and structural context.
R80L (p.Arg80Leu) variant details
- p.Arg80Leu
- ExAC rs372860708
- TOPMed rs372860708
- gnomAD rs372860708
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.52
- CADD 16.50
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available