G52E (p.Gly52Glu) variant of NPHS2 (Podocin)
G52E (p.Gly52Glu) in NPHS2 (Podocin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.17
- CADD 0.64
- PolyPhen-2 0.00
- SIFT 0.61
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available