G97S (p.Gly97Ser) variant of NPHS2 (Podocin)
G97S (p.Gly97Ser) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G97S (p.Gly97Ser) variant details
- p.Gly97Ser
- rs200913299
- ClinGen CA1267263
- ClinVar RCV003051043
- UniProt VAR 071216
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.28
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in NPHS2)
- UniProt: Uncertain significance (in NPHS2)
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available
- Cited in: NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. (PMID 24227627)
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)