L12del (p.Leu12del) variant of HFE (Q30201)
L12del (p.Leu12del) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L12del (p.Leu12del) variant details
- rs748197032
- gnomAD 6-26087467-TCTC-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 12.70
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available