R7G (p.Arg7Gly) variant of TNFRSF4 (P43489)
R7G (p.Arg7Gly) 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 0.12 / 1. The record also includes population frequency data.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- 1000Genomes rs572497059
- ExAC rs572497059
- TOPMed rs572497059
- gnomAD rs572497059
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.11
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)