F34L (p.Phe34Leu) variant of NPHS1 (Nephrin)
F34L (p.Phe34Leu) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
F34L (p.Phe34Leu) variant details
- p.Phe34Leu
- 1000Genomes rs201546612
- gnomAD rs201546612
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.40
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available