R38L (p.Arg38Leu) variant of NPHS2 (Podocin)
R38L (p.Arg38Leu) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R38L (p.Arg38Leu) variant details
- p.Arg38Leu
- ExAC rs762145203
- TOPMed rs762145203
- gnomAD rs762145203
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.32
- CADD 0.89
- PolyPhen-2 0.02
- SIFT 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.8e-05)
- Structural context available