G31D (p.Gly31Asp) variant of SLC40A1 (Ferroportin)
G31D (p.Gly31Asp) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- rs1488625305
- ClinGen CA349989982
- ClinVar RCV001139636
- ClinVar RCV004783903
- Uncertain significance
- not provided; Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.71
- CADD 25.20
- PolyPhen-2 0.49
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Hemochromatosis type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available