G36P (p.Gly36Pro) variant of HFE (Q30201)
G36P (p.Gly36Pro) in HFE (Q30201) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G36P (p.Gly36Pro) variant details
- p.Gly36Pro
- rs1313557727
- gnomAD 6-26090867-ATGGG-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 28.40
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available