S123F (p.Ser123Phe) variant of HMGCS2 (P54868)

S123F (p.Ser123Phe) in HMGCS2 (P54868) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

S123F (p.Ser123Phe) variant details