G99E (p.Gly99Glu) variant of NPHS2 (Podocin)
G99E (p.Gly99Glu) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G99E (p.Gly99Glu) variant details
- p.Gly99Glu
- rs771349484
- ClinGen CA1267262
- ClinVar RCV002924364
- ExAC rs771349484
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.74
- CADD 23.80
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)