T105M (p.Thr105Met) variant of LRBA (P50851)
T105M (p.Thr105Met) in LRBA (P50851) is a missense change. Clinical records from ClinVar, EBI, 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 0.65 / 1. The record also includes population frequency data.
T105M (p.Thr105Met) variant details
- p.Thr105Met
- rs1467585610
- TOPMed rs1467585610
- gnomAD rs1467585610
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- MetaLR 0.34
- MetaSVM -0.43
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)