A107E (p.Ala107Glu) variant of NPHS1 (Nephrin)
A107E (p.Ala107Glu) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A107E (p.Ala107Glu) variant details
- p.Ala107Glu
- rs386833934
- ClinGen CA405410912
- NCI-TCGA Cosmic COSV6229
- cosmic curated COSV62290
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.46
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. (PMID 20798252)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)