I122V (p.Ile122Val) variant of LRBA (P50851)
I122V (p.Ile122Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
I122V (p.Ile122Val) variant details
- p.Ile122Val
- rs1394605018
- ClinGen CA358439362
- ClinVar RCV002797866
- TOPMed rs1394605018
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- MetaLR 0.07
- MetaSVM -1.01
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- 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)