F72S (p.Phe72Ser) variant of TNFRSF9 (Q07011)
F72S (p.Phe72Ser) in TNFRSF9 (Q07011) 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 0.31 / 1. The record also includes population frequency data and structural context.
F72S (p.Phe72Ser) variant details
- p.Phe72Ser
- rs2151420079
- ClinGen CA338160581
- ClinVar RCV001950400
- Ensembl rs2151420079
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.14
- CADD 24.80
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available