P66L (p.Pro66Leu) variant of TNFRSF4 (P43489)
P66L (p.Pro66Leu) 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 provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
P66L (p.Pro66Leu) variant details
- p.Pro66Leu
- rs370919067
- ClinGen CA512628
- ClinVar RCV000807184
- ClinVar RCV004691305
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.12
- CADD 8.59
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency; not provided;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)