P12L (p.Pro12Leu) variant of TNFRSF4 (P43489)
P12L (p.Pro12Leu) 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 0.26 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- rs771462465
- ClinGen CA512700
- ClinVar RCV001054037
- 1000Genomes rs771462465
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.25
- CADD 16.60
- PolyPhen-2 0.99
- SIFT 0.31
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available