L44P (p.Leu44Pro) variant of HFE (Q30201)
L44P (p.Leu44Pro) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L44P (p.Leu44Pro) variant details
- p.Leu44Pro
- gnomAD 6-26090895-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.18
- MetaLR 0.70
- MetaSVM -0.18
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available