G30V (p.Gly30Val) variant of HOGA1 (Q86XE5)
G30V (p.Gly30Val) 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; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- rs759795758
- ClinGen CA5633827
- ClinVar RCV002714301
- ClinVar RCV005051250
- Uncertain significance
- Primary hyperoxaluria type 3; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.75
- MetaSVM 0.55
- CADD 21.50
- ClinVar: Uncertain significance (Primary hyperoxaluria type 3; not provided; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)