Q16Q (p.Gln16Gln) variant of HFE (Q30201)
Q16Q (p.Gln16Gln) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q16Q (p.Gln16Gln) variant details
- p.Gln16Gln
- gnomAD 6-26087488-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 9.65
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available