T72A (p.Thr72Ala) variant of HFE (Q30201)
T72A (p.Thr72Ala) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T72A (p.Thr72Ala) variant details
- p.Thr72Ala
- gnomAD rs1314720488
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.05
- CADD 0.48
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available