A59P (p.Ala59Pro) variant of NPHS2 (Podocin)
A59P (p.Ala59Pro) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A59P (p.Ala59Pro) variant details
- p.Ala59Pro
- ExAC rs756699855
- gnomAD rs756699855
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.43
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available