E50K (p.Glu50Lys) variant of C9ORF72 (Q96LT7)
E50K (p.Glu50Lys) 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.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- ExAC rs766734628
- gnomAD rs766734628
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.03
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available