G142E (p.Gly142Glu) variant of C9ORF72 (Q96LT7)
G142E (p.Gly142Glu) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G142E (p.Gly142Glu) variant details
- p.Gly142Glu
- 1000Genomes rs558489073
- gnomAD rs558489073
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.44
- CADD 26.40
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available