Q93H (p.Gln93His) variant of SLC40A1 (Ferroportin)
Q93H (p.Gln93His) 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 0.49 / 1. The record also includes population frequency data and structural context.
Q93H (p.Gln93His) variant details
- p.Gln93His
- NCI-TCGA Cosmic COSV5372
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.53
- CADD 16.90
- PolyPhen-2 0.07
- SIFT 0.66
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available