N143S (p.Asn143Ser) variant of ATP6V0A4 (Q9HBG4)
N143S (p.Asn143Ser) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Renal tubular acidosis, distal, 3, with or without sens. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N143S (p.Asn143Ser) variant details
- p.Asn143Ser
- rs1806870820
- ClinGen CA369376648
- ClinVar RCV004418721
- ClinVar RCV005040658
- Uncertain significance
- Inborn genetic diseases; Renal tubular acidosis, distal, 3, with or without sens
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.33
- MetaSVM -0.84
- CADD 8.73
- ClinVar: Uncertain significance (Inborn genetic diseases; Renal tubular acidosis, distal, 3, with)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)