P57T (p.Pro57Thr) variant of NPHS2 (Podocin)
P57T (p.Pro57Thr) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P57T (p.Pro57Thr) variant details
- p.Pro57Thr
- gnomAD rs1417783121
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.28
- CADD 10.90
- PolyPhen-2 0.01
- SIFT 0.43
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available