G18V (p.Gly18Val) variant of GFAP (Glial fibrillary acidic protein)
G18V (p.Gly18Val) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GFAP-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- rs2508951149
- ClinGen CA399849182
- ClinVar RCV004548501
- Pathogenic
- GFAP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 2.23
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Pathogenic (GFAP-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available