V9M (p.Val9Met) variant of OPA1 (O60313)
V9M (p.Val9Met) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V9M (p.Val9Met) variant details
- p.Val9Met
- gnomAD rs1310378860
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.25
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.08
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.55)
- Structural context available