A51V (p.Ala51Val) variant of NPHS2 (Podocin)
A51V (p.Ala51Val) 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.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- TOPMed rs1050414387
- gnomAD rs1050414387
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.28
- CADD 9.68
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Amish population (allele frequency 0.029)
- Structural context available