E2K (p.Glu2Lys) variant of GFAP (Glial fibrillary acidic protein)
E2K (p.Glu2Lys) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- cosmic curated COSV10458
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 22.70
- PolyPhen-2 0.17
- SIFT 0.02
- Most common in the HGDP:YAKUT population (allele frequency 0.04)