R11G (p.Arg11Gly) variant of GFAP (Glial fibrillary acidic protein)
R11G (p.Arg11Gly) in GFAP (Glial fibrillary acidic protein) 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 0.46 / 1. The record also includes population frequency data and published literature.
R11G (p.Arg11Gly) variant details
- p.Arg11Gly
- rs749815672
- ClinGen CA399849224
- ClinVar RCV003221160
- ExAC rs749815672
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 22.70
- 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 East Asian population (allele frequency 0.00015)
- 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)