E166K (p.Glu166Lys) variant of C9ORF72 (Q96LT7)
E166K (p.Glu166Lys) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E166K (p.Glu166Lys) variant details
- p.Glu166Lys
- ESP rs368117087
- ExAC rs368117087
- TOPMed rs368117087
- gnomAD rs368117087
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.20
- CADD 24.10
- PolyPhen-2 0.95
- SIFT 0.68
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available