R70Q (p.Arg70Gln) variant of HOGA1 (Q86XE5)
R70Q (p.Arg70Gln) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; HOGA1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R70Q (p.Arg70Gln) variant details
- p.Arg70Gln
- rs267606763
- ClinGen CA212658836
- ClinVar RCV002998212
- ExAC rs267606763
- Uncertain significance
- Inborn genetic diseases; HOGA1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.28
- ESM-1b 0.70
- AlphaMissense 0.10
- MetaLR 0.71
- MetaSVM 0.32
- CADD 23.00
- ClinVar: Uncertain significance (Inborn genetic diseases; HOGA1-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- 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)