A9V (p.Ala9Val) variant of GFAP (Glial fibrillary acidic protein)
A9V (p.Ala9Val) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- 1000Genomes rs202212750
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the East Asian population (allele frequency 0.00015)