E76G (p.Glu76Gly) variant of C9ORF72 (Q96LT7)
E76G (p.Glu76Gly) 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 0.40 / 1. The record also includes population frequency data and structural context.
E76G (p.Glu76Gly) variant details
- p.Glu76Gly
- rs906448560
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10118
- TOPMed rs906448560
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.24
- CADD 24.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available