I35V (p.Ile35Val) variant of HOGA1 (Q86XE5)
I35V (p.Ile35Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I35V (p.Ile35Val) variant details
- p.Ile35Val
- rs758339645
- ClinGen CA5633831
- ClinVar RCV003447369
- ExAC rs758339645
- Uncertain significance
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.60
- MetaSVM -0.06
- CADD 16.72
- ClinVar: Uncertain significance (Primary hyperoxaluria type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)