G11R (p.Gly11Arg) variant of TNFRSF4 (P43489)
G11R (p.Gly11Arg) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Combined immunodeficiency due to OX40 deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- rs376504072
- ClinGen CA512703
- ClinVar RCV000816564
- ClinVar RCV004691312
- Uncertain significance
- not specified; Combined immunodeficiency due to OX40 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.09
- CADD 11.20
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (not specified; Combined immunodeficiency due to OX40 deficiency;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available