Q28H (p.Gln28His) variant of FKRP (Q9H9S5)
Q28H (p.Gln28His) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes population frequency data and structural context.
Q28H (p.Gln28His) variant details
- p.Gln28His
- gnomAD rs1473222153
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available