A8A (p.Ala8Ala) variant of HFE (Q30201)
A8A (p.Ala8Ala) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- gnomAD 6-26087464-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 10.20
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available