I40M (p.Ile40Met) variant of OPA1 (O60313)
I40M (p.Ile40Met) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I40M (p.Ile40Met) variant details
- p.Ile40Met
- ExAC rs754495559
- gnomAD rs754495559
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.45
- CADD 23.50
- PolyPhen-2 0.73
- SIFT 0.01
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available