R31M (p.Arg31Met) variant of NPHS2 (Podocin)
R31M (p.Arg31Met) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R31M (p.Arg31Met) variant details
- p.Arg31Met
- gnomAD rs1205324277
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.41
- CADD 14.30
- PolyPhen-2 0.54
- SIFT 0.06
- Population evidence available
- Structural context available