Q7R (p.Gln7Arg) variant of NRXN1 (Neurexin-1)
Q7R (p.Gln7Arg) in NRXN1 (Neurexin-1) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- rs1558617775
- ClinGen CA346824871
- ClinVar RCV002317606
- Ensembl rs1558617775
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.13
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.6e-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)