G92S (p.Gly92Ser) variant of NPHS2 (Podocin)
G92S (p.Gly92Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G92S (p.Gly92Ser) variant details
- p.Gly92Ser
- rs74315345
- ClinGen CA343552395
- NCI-TCGA Cosmic COSV6263
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.64
- AlphaMissense 0.24
- MetaLR 0.98
- MetaSVM 1.09
- CADD 26.60
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Population evidence available
- Structural context available