P44L (p.Pro44Leu) variant of GFAP (Glial fibrillary acidic protein)
P44L (p.Pro44Leu) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- TOPMed rs1353517133
- gnomAD rs1353517133
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 4.8e-05)