R56S (p.Arg56Ser) variant of OPA1 (O60313)
R56S (p.Arg56Ser) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R56S (p.Arg56Ser) variant details
- p.Arg56Ser
- rs2474576058
- ClinGen CA355786646
- ClinVar RCV003012568
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.27
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available