T105K (p.Thr105Lys) variant of LRBA (P50851)
T105K (p.Thr105Lys) in LRBA (P50851) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
T105K (p.Thr105Lys) variant details
- p.Thr105Lys
- TOPMed rs1467585610
- gnomAD rs1467585610
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- MetaLR 0.30
- MetaSVM -0.68
- CADD 25.90
- PolyPhen-2 0.85
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)