S27L (p.Ser27Leu) variant of HFE (Q30201)
S27L (p.Ser27Leu) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S27L (p.Ser27Leu) variant details
- p.Ser27Leu
- gnomAD rs1429701586
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.25
- CADD 23.40
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available