M1L (p.Met1Leu) variant of NPHS2 (Podocin)
M1L (p.Met1Leu) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2101887841
- ClinGen CA343554484
- ClinVar RCV001849816
- ClinVar RCV002250777
- Pathogenic
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- MetaLR 0.99
- MetaSVM 1.08
- PolyPhen-2 0.52
- SIFT 0.05
- MutPred 0.96
- ClinVar: Pathogenic (Nephrotic syndrome, type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)