F92C (p.Phe92Cys) variant of TNFRSF9 (Q07011)
F92C (p.Phe92Cys) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
F92C (p.Phe92Cys) variant details
- p.Phe92Cys
- rs1639851898
- ClinGen CA338160444
- ClinVar RCV002930269
- TOPMed rs1639851898
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- AlphaMissense 0.79
- MetaLR 0.06
- MetaSVM -1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)