R38S (p.Arg38Ser) variant of NPHS2 (Podocin)
R38S (p.Arg38Ser) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R38S (p.Arg38Ser) variant details
- p.Arg38Ser
- ExAC rs767644222
- TOPMed rs767644222
- gnomAD rs767644222
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.32
- CADD 8.07
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available