Q21E (p.Gln21Glu) variant of HFE (Q30201)
Q21E (p.Gln21Glu) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q21E (p.Gln21Glu) variant details
- p.Gln21Glu
- gnomAD 6-26087501-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.06
- MetaLR 0.31
- MetaSVM -0.63
- CADD 11.70
- PolyPhen-2 0.04
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available