P838T (p.Pro838Thr) variant of NPHS1 (Nephrin)
P838T (p.Pro838Thr) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P838T (p.Pro838Thr) variant details
- p.Pro838Thr
- rs2146819513
- ClinGen CA405392264
- ClinVar RCV001391131
- Ensembl rs2146819513
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.75
- MetaLR 0.82
- MetaSVM 0.79
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)