A297V (p.Ala297Val) variant of NPHS2 (Podocin)
A297V (p.Ala297Val) 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; Inborn genetic diseases; Steroid-resistant nephro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A297V (p.Ala297Val) variant details
- p.Ala297Val
- rs199506378
- ClinGen CA1267067
- ClinVar RCV000409446
- ClinVar RCV001328161
- Pathogenic/Likely pathogenic
- Idiopathic nephrotic syndrome; Inborn genetic diseases; Steroid-resistant nephro
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.78
- CADD 25.90
- PolyPhen-2 0.63
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Idiopathic nephrotic syndrome; Inborn genetic diseases; Steroid-)
- EBI: Pathogenic (in dbSNP:rs199506378)
- UniProt: Pathogenic (in dbSNP:rs199506378)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. (PMID 20798252)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)