A40P (p.Ala40Pro) variant of GFAP (Glial fibrillary acidic protein)
A40P (p.Ala40Pro) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
A40P (p.Ala40Pro) variant details
- p.Ala40Pro
- 1000Genomes rs564205924
- ExAC rs564205924
- gnomAD rs564205924
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 0.00041)