A49S (p.Ala49Ser) variant of HFE (Q30201)
A49S (p.Ala49Ser) 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. The record also includes structural context.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- rs2481601727
- ClinGen CA363204367
- ClinVar RCV003123388
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available