R36H (p.Arg36His) variant of GFAP (Glial fibrillary acidic protein)
R36H (p.Arg36His) 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 0.59 / 1. The record also includes population frequency data.
R36H (p.Arg36His) variant details
- p.Arg36His
- rs375709542
- ClinGen CA8609102
- cosmic curated COSV53650
- ClinVar RCV002922899
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 24.20
- PolyPhen-2 0.47
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)