R31S (p.Arg31Ser) variant of NPHS2 (Podocin)
R31S (p.Arg31Ser) 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 0.32 / 1. The record also includes population frequency data and structural context.
R31S (p.Arg31Ser) variant details
- p.Arg31Ser
- gnomAD rs1437690215
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.35
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available