D54G (p.Asp54Gly) variant of HFE (Q30201)
D54G (p.Asp54Gly) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
D54G (p.Asp54Gly) variant details
- p.Asp54Gly
- TOPMed rs1187279903
- gnomAD rs1187279903
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.79
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available