R11S (p.Arg11Ser) variant of HOGA1 (Q86XE5)
R11S (p.Arg11Ser) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria type 3; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R11S (p.Arg11Ser) variant details
- p.Arg11Ser
- rs778696295
- ClinGen CA5633810
- ClinVar RCV001243384
- ClinVar RCV001829028
- Uncertain significance
- Primary hyperoxaluria type 3; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.65
- MetaSVM 0.09
- CADD 20.60
- ClinVar: Uncertain significance (Primary hyperoxaluria type 3; Inborn genetic diseases; not provi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)