R11H (p.Arg11His) variant of GFAP (Glial fibrillary acidic protein)
R11H (p.Arg11His) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
R11H (p.Arg11His) variant details
- p.Arg11His
- rs780481913
- ClinGen CA8609128
- ClinVar RCV001921246
- ExAC rs780481913
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)