W81R (p.Trp81Arg) variant of SLC4A1 (Band 3 anion transport protein)
W81R (p.Trp81Arg) 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 0.81 / 1. The record also includes population frequency data and structural context.
W81R (p.Trp81Arg) variant details
- p.Trp81Arg
- TOPMed rs1487738715
- gnomAD rs1487738715
- Uncertain significance
- Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.94
- CADD 28.20
- ClinVar: Uncertain significance (Autosomal dominant distal renal tubular acidosis; Renal tubular)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available