A5E (p.Ala5Glu) variant of NPHS2 (Podocin)
A5E (p.Ala5Glu) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- TOPMed rs1213377429
- gnomAD rs1213377429
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.48
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the East Asian population (allele frequency 3.1e-05)
- Structural context available