A107T (p.Ala107Thr) variant of NPHS1 (Nephrin)
A107T (p.Ala107Thr) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Finnish congenital nephrotic syndrome; 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.
A107T (p.Ala107Thr) variant details
- p.Ala107Thr
- rs386833933
- ClinGen CA250221
- cosmic curated COSV62286
- ClinVar RCV000049907
- Conflicting interpretations
- not provided; Finnish congenital nephrotic syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.40
- CADD 23.00
- PolyPhen-2 0.75
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (not provided; Finnish congenital nephrotic syndrome; not specifi)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. (PMID 18614772)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)