K22E (p.Lys22Glu) variant of C9ORF72 (Q96LT7)
K22E (p.Lys22Glu) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
K22E (p.Lys22Glu) variant details
- p.Lys22Glu
- Ensembl rs2131545587
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.04
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available