V68M (p.Val68Met) variant of HFE (Q30201)
V68M (p.Val68Met) 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.
V68M (p.Val68Met) variant details
- p.Val68Met
- rs776668429
- ClinGen CA3666611
- ClinVar RCV003485839
- ExAC rs776668429
- Uncertain significance
- Hemochromatosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.39
- MetaLR 0.25
- MetaSVM -0.61
- PolyPhen-2 1.00
- SIFT 1.00
- EVE 0.12
- ClinVar: Uncertain significance (Hemochromatosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)
- Cited in: HFE-Related Hemochromatosis. (PMID 20301613)