M10L (p.Met10Leu) variant of ATP6V0A4 (Q9HBG4)
M10L (p.Met10Leu) 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; I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
M10L (p.Met10Leu) variant details
- p.Met10Leu
- TOPMed rs1055939841
- gnomAD rs1055939841
- Uncertain significance
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; I
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.66
- MetaLR 0.89
- MetaSVM 1.02
- CADD 25.90
- ClinVar: Uncertain significance (Renal tubular acidosis, distal, 3, with or without sensorineural)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available