P11L (p.Pro11Leu) variant of LRBA (P50851)
P11L (p.Pro11Leu) 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 0.37 / 1. The record also includes population frequency data and published literature.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- rs925500510
- ClinGen CA108439385
- ClinVar RCV002798639
- TOPMed rs925500510
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- MetaLR 0.08
- MetaSVM -1.10
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)