G51E (p.Gly51Glu) variant of TNFRSF4 (P43489)
G51E (p.Gly51Glu) in TNFRSF4 (P43489) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
G51E (p.Gly51Glu) variant details
- p.Gly51Glu
- TOPMed rs926489272
- gnomAD rs926489272
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.33
- CADD 19.20
- PolyPhen-2 0.99
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)