P39Q (p.Pro39Gln) variant of FH (P07954)
P39Q (p.Pro39Gln) in FH (P07954) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P39Q (p.Pro39Gln) variant details
- p.Pro39Gln
- TOPMed rs1415259326
- gnomAD rs1415259326
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available