T17S (p.Thr17Ser) variant of HFE (Q30201)
T17S (p.Thr17Ser) in HFE (Q30201) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
T17S (p.Thr17Ser) variant details
- p.Thr17Ser
- ESP rs143662783
- ExAC rs143662783
- TOPMed rs143662783
- gnomAD rs143662783
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.03
- CADD 12.00
- PolyPhen-2 0.08
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available