T17T (p.Thr17Thr) variant of HFE (Q30201)
T17T (p.Thr17Thr) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T17T (p.Thr17Thr) variant details
- p.Thr17Thr
- rs953205703
- gnomAD 6-26087491-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.28
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available