G30E (p.Gly30Glu) variant of LRBA (P50851)
G30E (p.Gly30Glu) 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 0.25 / 1. The record also includes population frequency data.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- ExAC rs754377116
- TOPMed rs754377116
- gnomAD rs754377116
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- MetaLR 0.09
- MetaSVM -0.98
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)