I24N (p.Ile24Asn) variant of OPA1 (O60313)
I24N (p.Ile24Asn) in OPA1 (O60313) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
I24N (p.Ile24Asn) variant details
- p.Ile24Asn
- rs2474574768
- ClinGen CA2580070539
- ClinVar RCV002290233
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available