G55W (p.Gly55Trp) variant of NPHS2 (Podocin)
G55W (p.Gly55Trp) 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.
G55W (p.Gly55Trp) variant details
- p.Gly55Trp
- TOPMed rs1409794630
- gnomAD rs1409794630
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.43
- CADD 14.90
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available