A79G (p.Ala79Gly) variant of C9ORF72 (Q96LT7)
A79G (p.Ala79Gly) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A79G (p.Ala79Gly) variant details
- p.Ala79Gly
- ExAC rs776723269
- TOPMed rs776723269
- gnomAD rs776723269
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.32
- CADD 26.40
- PolyPhen-2 0.81
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available