L67R (p.Leu67Arg) variant of SLC2A2 (P11168)
L67R (p.Leu67Arg) in SLC2A2 (P11168) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L67R (p.Leu67Arg) variant details
- p.Leu67Arg
- rs1560039886
- ClinGen CA355493479
- ClinVar RCV003355102
- Ensembl rs1560039886
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.52
- CADD 13.30
- PolyPhen-2 0.02
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- 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)