R92S (p.Arg92Ser) variant of HMGCS2 (P54868)
R92S (p.Arg92Ser) in HMGCS2 (P54868) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R92S (p.Arg92Ser) variant details
- p.Arg92Ser
- ExAC rs771955824
- TOPMed rs771955824
- gnomAD rs771955824
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available