P12T (p.Pro12Thr) variant of LRBA (P50851)
P12T (p.Pro12Thr) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- gnomAD rs1474596690
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- MetaLR 0.15
- MetaSVM -0.98
- CADD 17.20
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)