F49L (p.Phe49Leu) variant of GLG1 (Golgi apparatus protein 1)
F49L (p.Phe49Leu) in GLG1 (Golgi apparatus protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
F49L (p.Phe49Leu) variant details
- p.Phe49Leu
- NCI-TCGA TCGA novel
- cosmic curated COSV52670
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.082
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.99
- CADD 4.58
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available