T14S (p.Thr14Ser) variant of LRBA (P50851)
T14S (p.Thr14Ser) 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 0.49 / 1. The record also includes population frequency data.
T14S (p.Thr14Ser) variant details
- p.Thr14Ser
- gnomAD rs1200143430
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- MetaLR 0.15
- MetaSVM -1.00
- CADD 22.30
- PolyPhen-2 0.27
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)