G42R (p.Gly42Arg) variant of NPHS2 (Podocin)
G42R (p.Gly42Arg) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Nephrotic syndrome, type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G42R (p.Gly42Arg) variant details
- p.Gly42Arg
- rs559836164
- ClinGen CA1267314
- ClinVar RCV000665608
- ClinVar RCV000883029
- Benign/Likely benign
- Nephrotic syndrome, type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.56
- CADD 2.69
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Benign/Likely benign (Nephrotic syndrome, type 2; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GWD population (allele frequency 0.052)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)