T129I (p.Thr129Ile) variant of LRBA (P50851)
T129I (p.Thr129Ile) in LRBA (P50851) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
T129I (p.Thr129Ile) variant details
- p.Thr129Ile
- cosmic curated COSV63958
- gnomAD rs1249361513
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- MetaLR 0.25
- MetaSVM -0.58
- CADD 25.00
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available