L103F (p.Leu103Phe) variant of NPHS1 (Nephrin)
L103F (p.Leu103Phe) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L103F (p.Leu103Phe) variant details
- p.Leu103Phe
- ExAC rs775189541
- TOPMed rs775189541
- gnomAD rs775189541
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.43
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available