M1I (p.Met1Ile) variant of OPA1 (O60313)
M1I (p.Met1Ile) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1724946838
- ClinGen CA355785431
- ClinVar RCV001542571
- ClinVar RCV003771664
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- MetaLR 0.76
- MetaSVM 0.62
- PolyPhen-2 0.53
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available