R96P (p.Arg96Pro) variant of SLC4A1 (Band 3 anion transport protein)
R96P (p.Arg96Pro) 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.
R96P (p.Arg96Pro) variant details
- p.Arg96Pro
- 1000Genomes rs141244582
- ESP rs141244582
- ExAC rs141244582
- TOPMed rs141244582
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.20
- CADD 15.90
- PolyPhen-2 0.02
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available