V3L (p.Val3Leu) variant of TNFRSF4 (P43489)
V3L (p.Val3Leu) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Combined immunodeficiency due to OX40 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
V3L (p.Val3Leu) variant details
- p.Val3Leu
- rs751046781
- ClinGen CA512716
- ClinVar RCV000907088
- ExAC rs751046781
- Likely benign
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.10
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Likely benign (Combined immunodeficiency due to OX40 deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available