A47T (p.Ala47Thr) variant of NPHS1 (Nephrin)
A47T (p.Ala47Thr) 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 0.06 / 1. The record also includes population frequency data and structural context.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- ExAC rs764249562
- TOPMed rs764249562
- gnomAD rs764249562
- Uncertain significance
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0581
- REVEL 0.02
- CADD 7.01
- PolyPhen-2 0.04
- SIFT 0.12
- ClinVar: Uncertain significance (Finnish congenital nephrotic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available