M1L (p.Met1Leu) variant of OPA1 (O60313)
M1L (p.Met1Leu) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs77160003
- ClinGen CA355785427
- ClinVar RCV003234343
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- MetaLR 0.71
- MetaSVM 0.41
- PolyPhen-2 0.17
- SIFT 0.00
- MutPred 0.99
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available