R36C (p.Arg36Cys) variant of GFAP (Glial fibrillary acidic protein)
R36C (p.Arg36Cys) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
R36C (p.Arg36Cys) variant details
- p.Arg36Cys
- rs1236176019
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99493
- TOPMed rs1236176019
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 27.00
- PolyPhen-2 0.54
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)