A18A (p.Ala18Ala) variant of HFE (Q30201)
A18A (p.Ala18Ala) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- rs1432538644
- gnomAD 6-26087494-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 12.30
- Population evidence available
- Structural context available
- Literature evidence available