E50K (p.Glu50Lys) variant of NPHS1 (Nephrin)
E50K (p.Glu50Lys) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- ExAC rs765675306
- gnomAD rs765675306
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.04
- CADD 9.34
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available