C62F (p.Cys62Phe) variant of TNFRSF9 (Q07011)
C62F (p.Cys62Phe) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar 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 0.73 / 1. The record also includes population frequency data and structural context.
C62F (p.Cys62Phe) variant details
- p.Cys62Phe
- ExAC rs755275894
- TOPMed rs755275894
- gnomAD rs755275894
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.70
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available