E120D (p.Glu120Asp) variant of C9ORF72 (Q96LT7)
E120D (p.Glu120Asp) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E120D (p.Glu120Asp) variant details
- p.Glu120Asp
- TOPMed rs1327923124
- gnomAD rs1327923124
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.19
- CADD 14.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available