R5C (p.Arg5Cys) variant of GFAP (Glial fibrillary acidic protein)
R5C (p.Arg5Cys) 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 0.45 / 1. The record also includes population frequency data and published literature.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs142049068
- ClinGen CA8609136
- cosmic curated COSV10587
- ClinVar RCV002764154
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 25.00
- PolyPhen-2 0.25
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)