L44V (p.Leu44Val) variant of HFE (Q30201)
L44V (p.Leu44Val) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L44V (p.Leu44Val) variant details
- p.Leu44Val
- gnomAD 6-26090894-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.11
- MetaLR 0.57
- MetaSVM -0.34
- CADD 22.90
- PolyPhen-2 0.94
- SIFT 0.23
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available