L104F (p.Leu104Phe) variant of NPHS2 (Podocin)
L104F (p.Leu104Phe) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
L104F (p.Leu104Phe) variant details
- p.Leu104Phe
- rs1674273482
- ClinGen CA343571017
- ClinVar RCV002647718
- TOPMed rs1674273482
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- AlphaMissense 0.09
- MetaLR 0.93
- MetaSVM 1.04
- PolyPhen-2 0.02
- SIFT 0.17
- EVE 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available