S39R (p.Ser39Arg) variant of OPA1 (O60313)
S39R (p.Ser39Arg) in OPA1 (O60313) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Optic atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S39R (p.Ser39Arg) variant details
- p.Ser39Arg
- gnomAD rs1487489879
- Uncertain significance
- Optic atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.49
- CADD 18.50
- ClinVar: Uncertain significance (Optic atrophy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available