N143D (p.Asn143Asp) variant of ATP6V0A4 (Q9HBG4)
N143D (p.Asn143Asp) 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; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
N143D (p.Asn143Asp) variant details
- p.Asn143Asp
- rs778873408
- ClinGen CA4505127
- ClinVar RCV001296721
- ClinVar RCV005040138
- Uncertain significance
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.39
- MetaSVM -0.32
- CADD 21.50
- ClinVar: Uncertain significance (Renal tubular acidosis, distal, 3, with or without sensorineural)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)