G58E (p.Gly58Glu) variant of LRBA (P50851)
G58E (p.Gly58Glu) 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 0.66 / 1. The record also includes population frequency data.
G58E (p.Gly58Glu) variant details
- p.Gly58Glu
- 1000Genomes rs79361576
- ExAC rs79361576
- TOPMed rs79361576
- gnomAD rs79361576
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- MetaLR 0.39
- MetaSVM -0.42
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)