Y2F (p.Tyr2Phe) variant of FH (P07954)
Y2F (p.Tyr2Phe) in FH (P07954) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
Y2F (p.Tyr2Phe) variant details
- p.Tyr2Phe
- TOPMed rs1553342167
- gnomAD rs1553342167
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available