T115I (p.Thr115Ile) variant of LRBA (P50851)
T115I (p.Thr115Ile) in LRBA (P50851) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to LRBA deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
T115I (p.Thr115Ile) variant details
- p.Thr115Ile
- gnomAD rs1349254578
- Uncertain significance
- Combined immunodeficiency due to LRBA deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- MetaLR 0.22
- MetaSVM -0.90
- CADD 23.90
- PolyPhen-2 0.65
- SIFT 0.01
- ClinVar: Uncertain significance (Combined immunodeficiency due to LRBA deficiency)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)