L30A (p.Leu30Ala) variant of HFE (Q30201)
L30A (p.Leu30Ala) in HFE (Q30201) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L30A (p.Leu30Ala) variant details
- p.Leu30Ala
- gnomAD 6-26090847-ACT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 24.50
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available