T93P (p.Thr93Pro) variant of NPHS2 (Podocin)
T93P (p.Thr93Pro) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T93P (p.Thr93Pro) variant details
- p.Thr93Pro
- TOPMed rs1250341232
- gnomAD rs1250341232
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.36
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available