A37A (p.Ala37Ala) variant of HFE (Q30201)
A37A (p.Ala37Ala) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A37A (p.Ala37Ala) variant details
- p.Ala37Ala
- gnomAD 6-26090875-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 10.60
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available