L12M (p.Leu12Met) variant of HFE (Q30201)
L12M (p.Leu12Met) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- gnomAD rs1258155795
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.06
- CADD 17.30
- PolyPhen-2 0.99
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available