V15L (p.Val15Leu) variant of GFAP (Glial fibrillary acidic protein)
V15L (p.Val15Leu) 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 0.07 / 1. The record also includes population frequency data.
V15L (p.Val15Leu) variant details
- p.Val15Leu
- rs146698039
- ClinGen CA8609124
- ClinVar RCV003077619
- ESP rs146698039
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0724
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)