A36V (p.Ala36Val) variant of HOGA1 (Q86XE5)
A36V (p.Ala36Val) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of HOGA1-related disorder; not provided; Primary hyperoxaluria type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- rs201803986
- ClinGen CA203936
- cosmic curated COSV53967
- ClinVar RCV000186472
- Conflicting interpretations
- HOGA1-related disorder; not provided; Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.48
- ESM-1b 0.32
- AlphaMissense 0.16
- MetaLR 0.57
- MetaSVM -0.24
- CADD 22.20
- ClinVar: Conflicting classifications of pathogenicity (HOGA1-related disorder; not provided; Primary hyperoxaluria type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.0029)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)