T115K (p.Thr115Lys) variant of LRBA (P50851)
T115K (p.Thr115Lys) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
T115K (p.Thr115Lys) variant details
- p.Thr115Lys
- gnomAD rs1349254578
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- MetaLR 0.21
- MetaSVM -0.80
- CADD 24.20
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)