R4G (p.Arg4Gly) variant of GFAP (Glial fibrillary acidic protein)
R4G (p.Arg4Gly) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- ExAC rs770750986
- TOPMed rs770750986
- gnomAD rs770750986
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)