A100S (p.Ala100Ser) variant of NPHS1 (Nephrin)
A100S (p.Ala100Ser) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
A100S (p.Ala100Ser) variant details
- p.Ala100Ser
- rs1379397351
- ClinGen CA405411055
- ClinVar RCV001122043
- TOPMed rs1379397351
- Uncertain significance
- Congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.08
- MetaLR 0.09
- MetaSVM -1.06
- PolyPhen-2 0.01
- SIFT 0.58
- EVE 0.14
- ClinVar: Uncertain significance (Congenital nephrotic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available