A672T (p.Ala672Thr) variant of NPHS1 (Nephrin)
A672T (p.Ala672Thr) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
A672T (p.Ala672Thr) variant details
- p.Ala672Thr
- rs1352354716
- ClinGen CA405397911
- ClinVar RCV001849788
- gnomAD rs1352354716
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.64
- MetaLR 0.56
- MetaSVM 0.16
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available