G14R (p.Gly14Arg) variant of NPHS2 (Podocin)
G14R (p.Gly14Arg) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- cosmic curated COSV10970
- TOPMed rs973602590
- gnomAD rs973602590
- Uncertain significance
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.36
- CADD 3.53
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Nephrotic syndrome, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available