V336D (p.Val336Asp) variant of AGXT (P21549)
V336D (p.Val336Asp) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of AGXT-related disorder; not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V336D (p.Val336Asp) variant details
- p.Val336Asp
- rs180177155
- ClinGen CA275775
- ClinVar RCV000186350
- ClinVar RCV003556225
- Pathogenic/Likely pathogenic
- AGXT-related disorder; not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 22.00
- PolyPhen-2 0.46
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (AGXT-related disorder; not provided; Primary hyperoxaluria, type)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- AGXT complementation assay *1 B: score 1.16
- Cited in: Clinical implications of mutation analysis in primary hyperoxaluria type 1. (PMID 15253729)
- Cited in: Gene symbol: AGXT. Disease: primary hyperoxaluria type I. (PMID 10394939)