G51A (p.Gly51Ala) variant of TNFRSF4 (P43489)
G51A (p.Gly51Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
G51A (p.Gly51Ala) variant details
- p.Gly51Ala
- rs926489272
- ClinGen CA16733604
- ClinVar RCV000821371
- ClinVar RCV005278676
- Uncertain significance
- not specified; Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.29
- CADD 18.40
- PolyPhen-2 0.74
- SIFT 0.07
- ClinVar: Uncertain significance (not specified; Combined immunodeficiency due to OX40 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)