G76E (p.Gly76Glu) variant of LRBA (P50851)
G76E (p.Gly76Glu) in LRBA (P50851) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to LRBA deficiency; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and published literature.
G76E (p.Gly76Glu) variant details
- p.Gly76Glu
- rs1260204902
- ClinGen CA358439686
- ClinVar RCV001915695
- ClinVar RCV004042696
- Uncertain significance
- Combined immunodeficiency due to LRBA deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- MetaLR 0.49
- MetaSVM -0.01
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Combined immunodeficiency due to LRBA deficiency; Inborn genetic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)