S29F (p.Ser29Phe) variant of NPHS1 (Nephrin)
S29F (p.Ser29Phe) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S29F (p.Ser29Phe) variant details
- p.Ser29Phe
- rs1339541913
- ClinGen CA405412383
- ClinVar RCV001992433
- ClinVar RCV002492072
- Uncertain significance
- not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 0.12
- MetaLR 0.36
- MetaSVM -0.68
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.18
- ClinVar: Uncertain significance (not provided; Finnish congenital nephrotic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)