R30C (p.Arg30Cys) variant of GFAP (Glial fibrillary acidic protein)
R30C (p.Arg30Cys) 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 0.63 / 1. The record also includes population frequency data.
R30C (p.Arg30Cys) variant details
- p.Arg30Cys
- rs770249831
- ClinGen CA8609110
- NCI-TCGA Cosmic COSV5364
- cosmic curated COSV53648
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 24.70
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)