S29F (p.Ser29Phe) variant of HFE (Q30201)
S29F (p.Ser29Phe) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S29F (p.Ser29Phe) variant details
- p.Ser29Phe
- gnomAD 6-26090850-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.53
- MetaLR 0.87
- MetaSVM 0.95
- CADD 24.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available