G92V (p.Gly92Val) variant of NPHS2 (Podocin)
G92V (p.Gly92Val) 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 0.75 / 1. The record also includes population frequency data and structural context.
G92V (p.Gly92Val) variant details
- p.Gly92Val
- ESP rs142342448
- ExAC rs142342448
- TOPMed rs142342448
- gnomAD rs142342448
- Uncertain significance
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.75
- CADD 25.30
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Uncertain significance (Nephrotic syndrome, type 2)
- EBI: Variant of uncertain significance (in NPHS2)
- UniProt: Uncertain significance (in NPHS2)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available