T19P (p.Thr19Pro) variant of NPHS2 (Podocin)
T19P (p.Thr19Pro) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T19P (p.Thr19Pro) variant details
- p.Thr19Pro
- TOPMed rs1442129751
- gnomAD rs1442129751
- Uncertain significance
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.27
- CADD 0.14
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Nephrotic syndrome, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available