V59A (p.Val59Ala) variant of HFE (Q30201)
V59A (p.Val59Ala) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V59A (p.Val59Ala) variant details
- p.Val59Ala
- TOPMed rs1467801632
- gnomAD rs1467801632
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.30
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available