R6Q (p.Arg6Gln) variant of NPHS2 (Podocin)
R6Q (p.Arg6Gln) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- rs760885607
- ClinGen CA1267338
- cosmic curated COSV10528
- ClinVar RCV001098018
- Uncertain significance
- not provided; Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.47
- CADD 25.30
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Nephrotic syndrome, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)