L183P (p.Leu183Pro) variant of HFE (Q30201)
L183P (p.Leu183Pro) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary hemochromatosis; Hemochromatosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L183P (p.Leu183Pro) variant details
- p.Leu183Pro
- rs199916850
- ClinGen CA3666671
- ClinVar RCV003079167
- ClinVar RCV005045240
- Pathogenic/Likely pathogenic
- Hereditary hemochromatosis; Hemochromatosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.42
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary hemochromatosis; Hemochromatosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)
- Cited in: HFE-Related Hemochromatosis. (PMID 20301613)