R65H (p.Arg65His) variant of TNFRSF4 (P43489)
R65H (p.Arg65His) 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 0.07 / 1. The record also includes population frequency data.
R65H (p.Arg65His) variant details
- p.Arg65His
- rs767897638
- ClinGen CA512629
- ClinVar RCV001060936
- ClinVar RCV004678938
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0735
- REVEL 0.09
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency; not specified)
- EBI: Variant of uncertain significance (in IMD16)
- UniProt: Uncertain significance (in IMD16)
- Most common in the REMAINING population (allele frequency 3.3e-05)