E87V (p.Glu87Val) variant of NPHS2 (Podocin)
E87V (p.Glu87Val) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E87V (p.Glu87Val) variant details
- p.Glu87Val
- gnomAD rs1248610544
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.62
- CADD 24.60
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available