A5D (p.Ala5Asp) variant of HFE (Q30201)
A5D (p.Ala5Asp) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A5D (p.Ala5Asp) variant details
- p.Ala5Asp
- gnomAD 6-26087454-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.16
- MetaLR 0.68
- MetaSVM -0.28
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available