D51Y (p.Asp51Tyr) variant of GFAP (Glial fibrillary acidic protein)
D51Y (p.Asp51Tyr) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data.
D51Y (p.Asp51Tyr) variant details
- p.Asp51Tyr
- gnomAD rs1475697926
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.78
- MetaLR 0.85
- MetaSVM 0.93
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)