S7R (p.Ser7Arg) variant of NPHS2 (Podocin)
S7R (p.Ser7Arg) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- ExAC rs750515960
- TOPMed rs750515960
- gnomAD rs750515960
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.52
- CADD 24.00
- PolyPhen-2 0.97
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available