A8V (p.Ala8Val) variant of HFE (Q30201)
A8V (p.Ala8Val) in HFE (Q30201) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary hemochromatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs999289975
- ClinGen CA136289689
- ClinVar RCV002971329
- TOPMed rs999289975
- Uncertain significance
- Hereditary hemochromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.09
- CADD 21.20
- PolyPhen-2 0.98
- SIFT 0.33
- ClinVar: Uncertain significance (Hereditary hemochromatosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)
- Cited in: HFE-Related Hemochromatosis. (PMID 20301613)