G33R (p.Gly33Arg) variant of ATP6V0A4 (Q9HBG4)
G33R (p.Gly33Arg) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Renal tubular acidosis, distal, 3, with or without sensorineural h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- rs139370870
- ClinGen CA4505256
- cosmic curated COSV59475
- ClinVar RCV001881715
- Uncertain significance
- not provided; Renal tubular acidosis, distal, 3, with or without sensorineural h
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.88
- MetaSVM 1.02
- CADD 24.90
- ClinVar: Uncertain significance (not provided; Renal tubular acidosis, distal, 3, with or without)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)