I17F (p.Ile17Phe) variant of C9ORF72 (Q96LT7)
I17F (p.Ile17Phe) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I17F (p.Ile17Phe) variant details
- p.Ile17Phe
- TOPMed rs974933058
- gnomAD rs974933058
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.14
- AlphaMissense 0.21
- MetaLR 0.08
- MetaSVM -1.04
- CADD 23.90
- PolyPhen-2 0.16
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available