T28I (p.Thr28Ile) variant of LRBA (P50851)
T28I (p.Thr28Ile) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
T28I (p.Thr28Ile) variant details
- p.Thr28Ile
- gnomAD rs1408600058
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- MetaLR 0.08
- MetaSVM -1.01
- CADD 9.67
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)