R12G (p.Arg12Gly) variant of GFAP (Glial fibrillary acidic protein)
R12G (p.Arg12Gly) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
R12G (p.Arg12Gly) variant details
- p.Arg12Gly
- rs375692636
- ClinGen CA399849220
- ClinVar RCV002765796
- ClinVar RCV005844103
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 25.00
- PolyPhen-2 0.35
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)