E69V (p.Glu69Val) variant of NPHS2 (Podocin)
E69V (p.Glu69Val) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E69V (p.Glu69Val) variant details
- p.Glu69Val
- ExAC rs752442249
- gnomAD rs752442249
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.38
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.13
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available