W7S (p.Trp7Ser) variant of HOGA1 (Q86XE5)
W7S (p.Trp7Ser) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Primary hyperoxaluria type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
W7S (p.Trp7Ser) variant details
- p.Trp7Ser
- rs116731711
- ClinGen CA5633808
- ClinVar RCV003447344
- ClinVar RCV005100098
- Uncertain significance
- not provided; Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.64
- MetaSVM 0.07
- CADD 23.20
- ClinVar: Uncertain significance (not provided; Primary hyperoxaluria type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)