R36L (p.Arg36Leu) variant of GFAP (Glial fibrillary acidic protein)
R36L (p.Arg36Leu) 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 0.56 / 1. The record also includes population frequency data.
R36L (p.Arg36Leu) variant details
- p.Arg36Leu
- ESP rs375709542
- ExAC rs375709542
- TOPMed rs375709542
- gnomAD rs375709542
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)