V53M (p.Val53Met) variant of HFE (Q30201)
V53M (p.Val53Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V53M (p.Val53Met) variant details
- p.Val53Met
- rs28934889
- ClinGen CA113801
- cosmic curated COSV58512
- ClinVar RCV000000032
- Uncertain significance
- Hemochromatosis type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.64
- CADD 22.60
- PolyPhen-2 0.80
- SIFT 0.06
- ClinVar: Uncertain significance (Hemochromatosis type 1; not provided)
- EBI: Benign (in dbSNP:rs28934889)
- UniProt: Benign (in dbSNP:rs28934889)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. (PMID 10401000)
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)