E19K (p.Glu19Lys) variant of NPHS1 (Nephrin)
E19K (p.Glu19Lys) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- TOPMed rs1973271375
- Missense
- Variant Prioritization Score for Impact Estimate 0.087
- REVEL 0.07
- CADD 4.39
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available