P20S (p.Pro20Ser) variant of NPHS2 (Podocin)
P20S (p.Pro20Ser) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- TOPMed rs1330347011
- gnomAD rs1330347011
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.20
- CADD 0.82
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Structural context available