S86R (p.Ser86Arg) variant of NPHS2 (Podocin)
S86R (p.Ser86Arg) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S86R (p.Ser86Arg) variant details
- p.Ser86Arg
- rs2526376498
- ClinGen CA2582342426
- ClinVar RCV003340977
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.58
- CADD 22.30
- PolyPhen-2 0.09
- SIFT 0.04
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)