R111G (p.Arg111Gly) variant of SLC4A1 (Band 3 anion transport protein)
R111G (p.Arg111Gly) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R111G (p.Arg111Gly) variant details
- p.Arg111Gly
- ExAC rs13306774
- TOPMed rs13306774
- gnomAD rs13306774
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.55
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available