P7R (p.Pro7Arg) variant of HFE (Q30201)
P7R (p.Pro7Arg) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary hemochromatosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- rs766754409
- ClinGen CA3666554
- ClinVar RCV001759061
- ClinVar RCV005057604
- Uncertain significance
- Hereditary hemochromatosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.04
- CADD 19.40
- PolyPhen-2 0.81
- SIFT 0.27
- ClinVar: Uncertain significance (Hereditary hemochromatosis; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)
- Cited in: HFE-Related Hemochromatosis. (PMID 20301613)