L57Q (p.Leu57Gln) variant of HFE (Q30201)
L57Q (p.Leu57Gln) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L57Q (p.Leu57Gln) variant details
- p.Leu57Gln
- gnomAD 6-26090934-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.30
- MetaLR 0.27
- MetaSVM -0.54
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.35
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available