T27M (p.Thr27Met) variant of TNFRSF4 (P43489)
T27M (p.Thr27Met) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to OX40 deficiency; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data.
T27M (p.Thr27Met) variant details
- p.Thr27Met
- rs775900244
- ClinGen CA512687
- NCI-TCGA Cosmic COSV5541
- ClinVar RCV000689630
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.01
- CADD 14.60
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00024)