I115M (p.Ile115Met) variant of C9ORF72 (Q96LT7)
I115M (p.Ile115Met) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I115M (p.Ile115Met) variant details
- p.Ile115Met
- ExAC rs760497690
- TOPMed rs760497690
- gnomAD rs760497690
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.22
- AlphaMissense 0.37
- MetaLR 0.16
- MetaSVM -0.90
- CADD 19.60
- PolyPhen-2 0.11
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available