P11T (p.Pro11Thr) variant of LRBA (P50851)
P11T (p.Pro11Thr) 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 0.59 / 1. The record also includes population frequency data.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- Ensembl rs1745228616
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- MetaLR 0.13
- MetaSVM -0.93
- CADD 23.80
- PolyPhen-2 0.08
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00013)