L34F (p.Leu34Phe) variant of ATP6V0A4 (Q9HBG4)
L34F (p.Leu34Phe) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L34F (p.Leu34Phe) variant details
- p.Leu34Phe
- rs1173300423
- ClinGen CA369379557
- ClinVar RCV001981337
- ClinVar RCV005031962
- Uncertain significance
- not provided; Renal tubular acidosis, distal, 3, with or without sensorineural h
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.65
- ESM-1b 0.93
- AlphaMissense 0.23
- MetaLR 0.87
- MetaSVM 0.94
- 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 Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)