P7P (p.Pro7Pro) variant of HFE (Q30201)
P7P (p.Pro7Pro) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P7P (p.Pro7Pro) variant details
- p.Pro7Pro
- rs114758821
- gnomAD 6-26087461-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.38
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available