S95L (p.Ser95Leu) variant of SLC40A1 (Ferroportin)
S95L (p.Ser95Leu) 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 0.69 / 1. The record also includes population frequency data and structural context.
S95L (p.Ser95Leu) variant details
- p.Ser95Leu
- NCI-TCGA Cosmic COSV5372
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.60
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available