D105N (p.Asp105Asn) variant of NPHS1 (Nephrin)
D105N (p.Asp105Asn) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Finnish congenital nephrotic syndrome; Nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D105N (p.Asp105Asn) variant details
- p.Asp105Asn
- rs386833932
- ClinGen CA250218
- cosmic curated COSV62289
- ClinVar RCV000049906
- Likely pathogenic
- not provided; Finnish congenital nephrotic syndrome; Nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.61
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Finnish congenital nephrotic syndrome; Nephrotic s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)