R71Q (p.Arg71Gln) variant of HFE (Q30201)
R71Q (p.Arg71Gln) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hemochromatosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R71Q (p.Arg71Gln) variant details
- p.Arg71Gln
- rs776741897
- ClinGen CA3666613
- NCI-TCGA Cosmic COSV5851
- cosmic curated COSV58512
- Uncertain significance
- not provided; Hemochromatosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.27
- CADD 17.40
- PolyPhen-2 0.65
- SIFT 0.41
- ClinVar: Uncertain significance (not provided; Hemochromatosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)
- Cited in: HFE-Related Hemochromatosis. (PMID 20301613)