G37E (p.Gly37Glu) variant of NPHS2 (Podocin)
G37E (p.Gly37Glu) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G37E (p.Gly37Glu) variant details
- p.Gly37Glu
- ExAC rs750532480
- TOPMed rs750532480
- gnomAD rs750532480
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.29
- CADD 8.77
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the African/African-American population (allele frequency 3.6e-05)
- Structural context available