I44V (p.Ile44Val) variant of C9ORF72 (Q96LT7)
I44V (p.Ile44Val) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I44V (p.Ile44Val) variant details
- p.Ile44Val
- TOPMed rs1362314955
- gnomAD rs1362314955
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.16
- AlphaMissense 0.98
- MetaLR 0.19
- MetaSVM -0.84
- CADD 20.60
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available