V3M (p.Val3Met) variant of TNFRSF4 (P43489)
V3M (p.Val3Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
V3M (p.Val3Met) variant details
- p.Val3Met
- rs751046781
- ClinGen CA337803302
- ClinVar RCV001308874
- ExAC rs751046781
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.08
- CADD 19.50
- PolyPhen-2 0.52
- SIFT 0.01
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 6e-05)