L20Q (p.Leu20Gln) variant of HFE (Q30201)
L20Q (p.Leu20Gln) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L20Q (p.Leu20Gln) variant details
- p.Leu20Gln
- gnomAD 6-26087499-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.03
- MetaLR 0.40
- MetaSVM -0.45
- CADD 10.80
- PolyPhen-2 0.03
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available