P3S (p.Pro3Ser) variant of HFE (Q30201)
P3S (p.Pro3Ser) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P3S (p.Pro3Ser) variant details
- p.Pro3Ser
- gnomAD rs1762348630
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.04
- CADD 19.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available