A55V (p.Ala55Val) variant of GFAP (Glial fibrillary acidic protein)
A55V (p.Ala55Val) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- ExAC rs750371041
- TOPMed rs750371041
- gnomAD rs750371041
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 21.90
- PolyPhen-2 0.26
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available