M112I (p.Met112Ile) variant of SLC40A1 (Ferroportin)
M112I (p.Met112Ile) 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 0.31 / 1. The record also includes population frequency data and structural context.
M112I (p.Met112Ile) variant details
- p.Met112Ile
- gnomAD rs1413696546
- NCI-TCGA Cosmic COSV5372
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.23
- CADD 19.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available