G30R (p.Gly30Arg) variant of ATP6V0A4 (Q9HBG4)
G30R (p.Gly30Arg) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- rs1233261241
- NCI-TCGA Cosmic COSV5947
- gnomAD rs1233261241
- Uncertain significance
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 1.00
- CADD 25.60
- ClinVar: Uncertain significance (Renal tubular acidosis, distal, 3, with or without sensorineural)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available