G55E (p.Gly55Glu) variant of SLC40A1 (Ferroportin)
G55E (p.Gly55Glu) in SLC40A1 (Ferroportin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G55E (p.Gly55Glu) variant details
- p.Gly55Glu
- NCI-TCGA Cosmic COSV5372
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.84
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available