R5H (p.Arg5His) variant of GFAP (Glial fibrillary acidic protein)
R5H (p.Arg5His) 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 0.46 / 1. The record also includes population frequency data.
R5H (p.Arg5His) variant details
- p.Arg5His
- rs773456179
- ClinGen CA8609135
- NCI-TCGA Cosmic COSV5364
- cosmic curated COSV53649
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)