L15S (p.Leu15Ser) variant of HFE (Q30201)
L15S (p.Leu15Ser) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
L15S (p.Leu15Ser) variant details
- p.Leu15Ser
- gnomAD rs1266453187
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.07
- CADD 23.30
- PolyPhen-2 0.52
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available