M1I (p.Met1Ile) variant of NPHS2 (Podocin)
M1I (p.Met1Ile) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1057516680
- ClinGen CA16040673
- ClinVar RCV000409834
- ClinGen CA343554473
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- MetaLR 0.99
- MetaSVM 1.17
- PolyPhen-2 0.85
- SIFT 0.37
- MutPred 0.99
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)