S38P (p.Ser38Pro) variant of HFE (Q30201)
S38P (p.Ser38Pro) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S38P (p.Ser38Pro) variant details
- p.Ser38Pro
- gnomAD 6-26090876-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.33
- MetaLR 0.02
- MetaSVM -1.02
- CADD 24.80
- PolyPhen-2 0.96
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available