L46F (p.Leu46Phe) variant of GFAP (Glial fibrillary acidic protein)
L46F (p.Leu46Phe) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
L46F (p.Leu46Phe) variant details
- p.Leu46Phe
- rs1347539627
- ClinGen CA399849027
- ClinVar RCV003864421
- TOPMed rs1347539627
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 22.00
- PolyPhen-2 0.43
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)