E310V (p.Glu310Val) variant of NPHS2 (Podocin)
E310V (p.Glu310Val) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
E310V (p.Glu310Val) variant details
- p.Glu310Val
- rs1572255744
- ClinGen CA343565773
- ClinVar RCV000786978
- UniProt VAR 079810
- Pathogenic
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 0.35
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.44
- ClinVar: Pathogenic (Nephrotic syndrome, type 2)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Structural context available
- Cited in: Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. (PMID 20798252)
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)