V59M (p.Val59Met) variant of HFE (Q30201)
V59M (p.Val59Met) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hemochromatosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V59M (p.Val59Met) variant details
- p.Val59Met
- rs111033557
- ClinGen CA113804
- cosmic curated COSV10035
- ClinVar RCV000000033
- Uncertain significance
- not specified; Hemochromatosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.27
- CADD 24.00
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Hemochromatosis type 1)
- EBI: Benign (in dbSNP:rs111033557)
- UniProt: Benign (in dbSNP:rs111033557)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)