R12H (p.Arg12His) variant of GFAP (Glial fibrillary acidic protein)
R12H (p.Arg12His) 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 0.77 / 1. The record also includes population frequency data.
R12H (p.Arg12His) variant details
- p.Arg12His
- 1000Genomes rs373706480
- ESP rs373706480
- ExAC rs373706480
- TOPMed rs373706480
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 25.10
- PolyPhen-2 0.68
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)