A82R (p.Ala82Arg) variant of NPHS2 (Podocin)
A82R (p.Ala82Arg) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
A82R (p.Ala82Arg) variant details
- p.Ala82Arg
- rs2526376882
- ClinGen CA2580061516
- ClinVar RCV002306986
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)