R3S (p.Arg3Ser) variant of NPHS2 (Podocin)
R3S (p.Arg3Ser) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- TOPMed rs1355832790
- gnomAD rs1355832790
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.45
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available