A9T (p.Ala9Thr) variant of NPHS1 (Nephrin)
A9T (p.Ala9Thr) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Finnish congenital nephrotic syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs376793744
- ClinGen CA9390943
- ClinVar RCV000401008
- ClinVar RCV001124815
- Uncertain significance
- Inborn genetic diseases; Finnish congenital nephrotic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.18
- CADD 1.27
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases; Finnish congenital nephrotic syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00038)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)