T5M (p.Thr5Met) variant of NPHS1 (Nephrin)
T5M (p.Thr5Met) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital nephrotic syndrome; not provided; Finnish congenital nephrotic syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T5M (p.Thr5Met) variant details
- p.Thr5Met
- rs191850409
- ClinGen CA9390947
- cosmic curated COSV10591
- ClinVar RCV000907367
- Conflicting interpretations
- Congenital nephrotic syndrome; not provided; Finnish congenital nephrotic syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.06
- CADD 7.48
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Congenital nephrotic syndrome; not provided; Finnish congenital)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:JPT population (allele frequency 0.015)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)