E50A (p.Glu50Ala) variant of C9ORF72 (Q96LT7)
E50A (p.Glu50Ala) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E50A (p.Glu50Ala) variant details
- p.Glu50Ala
- TOPMed rs1414695944
- gnomAD rs1414695944
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.07
- CADD 23.90
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available