L18V (p.Leu18Val) variant of FKRP (Q9H9S5)
L18V (p.Leu18Val) in FKRP (Q9H9S5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- TOPMed rs1226848053
- gnomAD rs1226848053
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available