G77C (p.Gly77Cys) variant of NPHS2 (Podocin)
G77C (p.Gly77Cys) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G77C (p.Gly77Cys) variant details
- p.Gly77Cys
- TOPMed rs1186309031
- gnomAD rs1186309031
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.44
- CADD 24.00
- PolyPhen-2 0.24
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available