A5G (p.Ala5Gly) variant of NPHS2 (Podocin)
A5G (p.Ala5Gly) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- TOPMed rs1213377429
- gnomAD rs1213377429
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.44
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available