R67L (p.Arg67Leu) variant of HFE (Q30201)
R67L (p.Arg67Leu) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hemochromatosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R67L (p.Arg67Leu) variant details
- p.Arg67Leu
- rs139523708
- ClinGen CA354217
- NCI-TCGA Cosmic COSV5851
- cosmic curated COSV58512
- Uncertain significance
- Hemochromatosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.09
- CADD 22.10
- PolyPhen-2 0.76
- SIFT 0.03
- ClinVar: Uncertain significance (Hemochromatosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)
- Cited in: HFE-Related Hemochromatosis. (PMID 20301613)