G34E (p.Gly34Glu) variant of NPHS2 (Podocin)
G34E (p.Gly34Glu) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G34E (p.Gly34Glu) variant details
- p.Gly34Glu
- rs1674742844
- UniProt VAR 071213
- TOPMed rs1674742844
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.40
- CADD 1.85
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available
- Cited in: NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. (PMID 12687458)