R138P (p.Arg138Pro) variant of NPHS2 (Podocin)
R138P (p.Arg138Pro) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R138P (p.Arg138Pro) variant details
- p.Arg138Pro
- rs74315342
- ClinGen CA343569724
- ClinVar RCV003988733
- UniProt VAR 087598
- Likely pathogenic
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.59
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Nephrotic syndrome, type 2)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Structural context available
- Cited in: A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. (PMID 23595123)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)