E89K (p.Glu89Lys) variant of C9ORF72 (Q96LT7)
E89K (p.Glu89Lys) in C9ORF72 (Q96LT7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E89K (p.Glu89Lys) variant details
- p.Glu89Lys
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10118
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.21
- CADD 26.00
- PolyPhen-2 0.88
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available