S96C (p.Ser96Cys) variant of NPHS2 (Podocin)
S96C (p.Ser96Cys) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S96C (p.Ser96Cys) variant details
- p.Ser96Cys
- TOPMed rs1250680481
- gnomAD rs1250680481
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.54
- CADD 24.00
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available