H62L (p.His62Leu) variant of HOGA1 (Q86XE5)
H62L (p.His62Leu) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary hyperoxaluria type 3; not provided; HOGA1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H62L (p.His62Leu) variant details
- p.His62Leu
- rs150812556
- ClinGen CA5633842
- ClinVar RCV000329496
- ClinVar RCV000908631
- Conflicting interpretations
- Primary hyperoxaluria type 3; not provided; HOGA1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.60
- MetaSVM -0.13
- CADD 17.85
- ClinVar: Conflicting classifications of pathogenicity (Primary hyperoxaluria type 3; not provided; HOGA1-related disord)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0089)
- 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)