H97L (p.His97Leu) variant of NPHS1 (Nephrin)
H97L (p.His97Leu) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
H97L (p.His97Leu) variant details
- p.His97Leu
- ExAC rs750879791
- TOPMed rs750879791
- gnomAD rs750879791
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0678
- REVEL 0.03
- CADD 9.36
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available