D64G (p.Asp64Gly) variant of LRBA (P50851)
D64G (p.Asp64Gly) in LRBA (P50851) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Combined immunodeficiency due to LRBA deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
D64G (p.Asp64Gly) variant details
- p.Asp64Gly
- rs1579508366
- ClinGen CA358610774
- ClinVar RCV000805668
- ClinVar RCV004986617
- Uncertain significance
- Inborn genetic diseases; Combined immunodeficiency due to LRBA deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- MetaLR 0.30
- MetaSVM -0.54
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Combined immunodeficiency due to LRBA d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-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)