S68C (p.Ser68Cys) variant of GFAP (Glial fibrillary acidic protein)
S68C (p.Ser68Cys) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and published literature.
S68C (p.Ser68Cys) variant details
- p.Ser68Cys
- rs180750421
- gnomAD 17-44905130-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 10.20
- Most common in the REMAINING population (allele frequency 0.00048)
- Literature evidence available