G46R (p.Gly46Arg) variant of NPHS1 (Nephrin)
G46R (p.Gly46Arg) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- TOPMed rs1344500638
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.79
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available