S48Y (p.Ser48Tyr) variant of NPHS2 (Podocin)
S48Y (p.Ser48Tyr) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
S48Y (p.Ser48Tyr) variant details
- p.Ser48Tyr
- rs886042865
- ClinGen CA10604789
- ClinVar RCV000395550
- Ensembl rs886042865
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.28
- CADD 10.80
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available