R11C (p.Arg11Cys) variant of GFAP (Glial fibrillary acidic protein)
R11C (p.Arg11Cys) 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.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- rs749815672
- ClinGen CA8609129
- ClinVar RCV001288189
- ExAC rs749815672
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)