P74R (p.Pro74Arg) variant of FHL1 (Q13642)
P74R (p.Pro74Arg) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of X-linked myopathy with postural muscle atrophy. The record also includes population frequency data and structural context.
P74R (p.Pro74Arg) variant details
- p.Pro74Arg
- gnomAD rs1316132670
- Uncertain significance
- X-linked myopathy with postural muscle atrophy
- Missense
- ClinVar: Uncertain significance (X-linked myopathy with postural muscle atrophy)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available