D58N (p.Asp58Asn) variant of AGXT (P21549)
D58N (p.Asp58Asn) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D58N (p.Asp58Asn) variant details
- p.Asp58Asn
- rs774651961
- ClinGen CA2209029
- ClinVar RCV001222536
- ClinVar RCV001833929
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.40
- PolyPhen-2 0.25
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8e-05)
- Structural context available
- AGXT complementation assay *2 B: score 1.33
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)
- Cited in: Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. (PMID 22547750)