T17I (p.Thr17Ile) variant of HFE (Q30201)
T17I (p.Thr17Ile) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary hemochromatosis; Hemochromatosis type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- rs143662783
- ClinGen CA3666564
- ClinVar RCV000538099
- ClinVar RCV000998545
- Uncertain significance
- Hereditary hemochromatosis; Hemochromatosis type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.04
- CADD 14.40
- PolyPhen-2 0.37
- SIFT 0.10
- ClinVar: Uncertain significance (Hereditary hemochromatosis; Hemochromatosis type 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)
- Cited in: HFE-Related Hemochromatosis. (PMID 20301613)