P73L (p.Pro73Leu) variant of NPHS1 (Nephrin)
P73L (p.Pro73Leu) 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; Congenital nephrotic syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- rs752777463
- ClinGen CA9390881
- ClinVar RCV001122044
- ClinVar RCV001192700
- Uncertain significance
- not specified; Congenital nephrotic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.41
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Congenital nephrotic syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)