R3T (p.Arg3Thr) variant of GFAP (Glial fibrillary acidic protein)
R3T (p.Arg3Thr) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
R3T (p.Arg3Thr) variant details
- p.Arg3Thr
- TOPMed rs1250081721
- gnomAD rs1250081721
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 18.40
- PolyPhen-2 0.03
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 4.8e-05)