S8F (p.Ser8Phe) variant of NPHS2 (Podocin)
S8F (p.Ser8Phe) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S8F (p.Ser8Phe) variant details
- p.Ser8Phe
- TOPMed rs1265598373
- gnomAD rs1265598373
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.49
- CADD 22.80
- PolyPhen-2 0.15
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available