R111P (p.Arg111Pro) variant of SLC4A1 (Band 3 anion transport protein)
R111P (p.Arg111Pro) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R111P (p.Arg111Pro) variant details
- p.Arg111Pro
- ExAC rs767615788
- TOPMed rs767615788
- gnomAD rs767615788
- Uncertain significance
- Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.51
- CADD 23.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal dominant distal renal tubular acidosis; Renal tubular)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00019)
- Structural context available