E40G (p.Glu40Gly) variant of NPHS2 (Podocin)
E40G (p.Glu40Gly) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E40G (p.Glu40Gly) variant details
- p.Glu40Gly
- Ensembl rs2101887492
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.31
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available