T72T (p.Thr72Thr) variant of HFE (Q30201)
T72T (p.Thr72Thr) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T72T (p.Thr72Thr) variant details
- p.Thr72Thr
- rs1249280724
- gnomAD 6-26090980-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 1.52
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available