L44R (p.Leu44Arg) variant of HFE (Q30201)
L44R (p.Leu44Arg) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L44R (p.Leu44Arg) variant details
- p.Leu44Arg
- gnomAD 6-26090895-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.31
- MetaLR 0.65
- MetaSVM -0.25
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available