A284V (p.Ala284Val) variant of NPHS2 (Podocin)
A284V (p.Ala284Val) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Idiopathic nephrotic syndrome; not provided; Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A284V (p.Ala284Val) variant details
- p.Ala284Val
- rs780761368
- ClinGen CA1267105
- NCI-TCGA Cosmic COSV6263
- cosmic curated COSV62635
- Pathogenic/Likely pathogenic
- Idiopathic nephrotic syndrome; not provided; Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.88
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Idiopathic nephrotic syndrome; not provided; Nephrotic syndrome,)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: NPHS2 mutations account for only 15% of nephrotic syndrome cases. (PMID 26420286)
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)