G30R (p.Gly30Arg) variant of LRBA (P50851)
G30R (p.Gly30Arg) 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 0.39 / 1. The record also includes population frequency data and published literature.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- rs780927941
- ClinGen CA3103973
- ClinVar RCV001312850
- ClinVar RCV006376930
- Uncertain significance
- Combined immunodeficiency due to LRBA deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- MetaLR 0.14
- MetaSVM -1.01
- CADD 20.60
- PolyPhen-2 0.07
- SIFT 0.02
- 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 2.9e-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)