G18E (p.Gly18Glu) variant of LRBA (P50851)
G18E (p.Gly18Glu) 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 0.52 / 1. The record also includes population frequency data.
G18E (p.Gly18Glu) variant details
- p.Gly18Glu
- ExAC rs749860824
- TOPMed rs749860824
- gnomAD rs749860824
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- MetaLR 0.24
- MetaSVM -0.78
- CADD 25.20
- PolyPhen-2 0.80
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)