A51P (p.Ala51Pro) variant of NPHS2 (Podocin)
A51P (p.Ala51Pro) in NPHS2 (Podocin) is a missense change. 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.
A51P (p.Ala51Pro) variant details
- p.Ala51Pro
- TOPMed rs911929132
- gnomAD rs911929132
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.31
- CADD 6.54
- PolyPhen-2 0.22
- SIFT 0.09
- Most common in the Amish population (allele frequency 0.029)
- Structural context available