R38C (p.Arg38Cys) variant of NPHS2 (Podocin)
R38C (p.Arg38Cys) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- ExAC rs767644222
- TOPMed rs767644222
- gnomAD rs767644222
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.35
- CADD 18.20
- PolyPhen-2 0.20
- SIFT 0.04
- Population evidence available
- Structural context available