T129S (p.Thr129Ser) variant of LRBA (P50851)
T129S (p.Thr129Ser) in LRBA (P50851) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of LRBA-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
T129S (p.Thr129Ser) variant details
- p.Thr129Ser
- rs1249361513
- ClinGen CA358439315
- ClinVar RCV003402373
- Uncertain significance
- LRBA-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- MetaLR 0.13
- MetaSVM -1.02
- CADD 21.60
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (LRBA-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available