V50A (p.Val50Ala) variant of LRBA (P50851)
V50A (p.Val50Ala) 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 record also includes published literature.
V50A (p.Val50Ala) variant details
- p.Val50Ala
- rs1313934523
- ClinGen CA358610855
- ClinVar RCV000810326
- ClinVar RCV003353042
- Uncertain significance
- Inborn genetic diseases; Combined immunodeficiency due to LRBA deficiency
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; Combined immunodeficiency due to LRBA d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)