Q115E (p.Gln115Glu) variant of ATP6V0A4 (Q9HBG4)
Q115E (p.Gln115Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q115E (p.Gln115Glu) variant details
- p.Gln115Glu
- rs1806903889
- ClinGen CA369376853
- ClinVar RCV004418720
- Ensembl rs1806903889
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.33
- MetaSVM -0.60
- CADD 16.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)