L46S (p.Leu46Ser) variant of HFE (Q30201)
L46S (p.Leu46Ser) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L46S (p.Leu46Ser) variant details
- p.Leu46Ser
- gnomAD 6-26090901-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.12
- MetaLR 0.31
- MetaSVM -0.63
- CADD 18.60
- PolyPhen-2 0.30
- SIFT 0.78
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available