M1T (p.Met1Thr) variant of NPHS1 (Nephrin)
M1T (p.Met1Thr) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs942323517
- ClinGen CA307791385
- ClinVar RCV002681527
- Pathogenic/Likely pathogenic
- not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- MetaLR 0.21
- MetaSVM -0.84
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.92
- ClinVar: Pathogenic/Likely pathogenic (not provided; Finnish congenital nephrotic syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available