N62D (p.Asn62Asp) variant of LRBA (P50851)
N62D (p.Asn62Asp) 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 0.38 / 1. The record also includes population frequency data and published literature.
N62D (p.Asn62Asp) variant details
- p.Asn62Asp
- rs368681065
- ClinGen CA3103951
- cosmic curated COSV10084
- ClinVar RCV001209007
- Uncertain significance
- Inborn genetic diseases; Combined immunodeficiency due to LRBA deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- MetaLR 0.10
- MetaSVM -1.04
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Combined immunodeficiency due to LRBA d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)