G37V (p.Gly37Val) variant of HOGA1 (Q86XE5)
G37V (p.Gly37Val) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary hyperoxaluria type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G37V (p.Gly37Val) variant details
- p.Gly37Val
- rs772722925
- ClinGen CA5633837
- cosmic curated COSV53969
- ClinVar RCV000670604
- Likely pathogenic
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.98
- CADD 28.10
- ClinVar: Likely pathogenic (Primary hyperoxaluria type 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)