T57N (p.Thr57Asn) variant of NPHS1 (Nephrin)
T57N (p.Thr57Asn) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T57N (p.Thr57Asn) variant details
- p.Thr57Asn
- Ensembl rs1599848088
- Uncertain significance
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.10
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.68
- ClinVar: Uncertain significance (Finnish congenital nephrotic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available