R10K (p.Arg10Lys) variant of NPHS2 (Podocin)
R10K (p.Arg10Lys) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R10K (p.Arg10Lys) variant details
- p.Arg10Lys
- TOPMed rs920479356
- gnomAD rs920479356
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.50
- CADD 23.20
- PolyPhen-2 0.90
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available