C101S (p.Cys101Ser) variant of NPHS2 (Podocin)
C101S (p.Cys101Ser) in NPHS2 (Podocin) 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 0.71 / 1. The record also includes population frequency data and structural context.
C101S (p.Cys101Ser) variant details
- p.Cys101Ser
- ExAC rs777738678
- TOPMed rs777738678
- gnomAD rs777738678
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.78
- AlphaMissense 0.49
- MetaLR 0.97
- MetaSVM 1.07
- CADD 22.60
- PolyPhen-2 0.41
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available