G24S (p.Gly24Ser) variant of GFAP (Glial fibrillary acidic protein)
G24S (p.Gly24Ser) 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 0.51 / 1. The record also includes population frequency data.
G24S (p.Gly24Ser) variant details
- p.Gly24Ser
- rs2051890499
- ClinGen CA399849144
- ClinVar RCV003734474
- gnomAD rs2051890499
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 6.42
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)