A8P (p.Ala8Pro) variant of HFE (Q30201)
A8P (p.Ala8Pro) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- TOPMed rs903564153
- gnomAD rs903564153
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.20
- CADD 21.80
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available