E2Q (p.Glu2Gln) variant of GFAP (Glial fibrillary acidic protein)
E2Q (p.Glu2Gln) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- TOPMed rs1211825074
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 23.40
- PolyPhen-2 0.29
- SIFT 0.02
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)