G41V (p.Gly41Val) variant of AGXT (P21549)
G41V (p.Gly41Val) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G41V (p.Gly41Val) variant details
- p.Gly41Val
- rs180177168
- ClinGen CA274216
- ClinVar RCV000169364
- ClinVar RCV001386862
- Conflicting interpretations
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 21.70
- PolyPhen-2 0.96
- SIFT 0.60
- ClinVar: Conflicting classifications of pathogenicity (not provided; Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.492
- Cited in: Gene symbol: AGXT. Disease: primary hyperoxaluria type I. (PMID 10394939)
- Cited in: Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate… (PMID 10453743)