L54Q (p.Leu54Gln) variant of GFAP (Glial fibrillary acidic protein)
L54Q (p.Leu54Gln) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar 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 0.54 / 1. The record also includes population frequency data.
L54Q (p.Leu54Gln) variant details
- p.Leu54Gln
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99493
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 24.00
- PolyPhen-2 0.84
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)