V75M (p.Val75Met) variant of TNFRSF4 (P43489)
V75M (p.Val75Met) 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 0.27 / 1. The record also includes population frequency data.
V75M (p.Val75Met) variant details
- p.Val75Met
- rs201012235
- ClinGen CA512616
- ClinVar RCV001212990
- ClinVar RCV006327212
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.23
- CADD 17.10
- PolyPhen-2 0.37
- SIFT 0.02
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)