P7Q (p.Pro7Gln) variant of HFE (Q30201)
P7Q (p.Pro7Gln) in HFE (Q30201) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P7Q (p.Pro7Gln) variant details
- p.Pro7Gln
- ExAC rs766754409
- TOPMed rs766754409
- gnomAD rs766754409
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.08
- CADD 19.70
- PolyPhen-2 0.86
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available