E76D (p.Glu76Asp) variant of C9ORF72 (Q96LT7)
E76D (p.Glu76Asp) 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 0.29 / 1. The record also includes population frequency data and structural context.
E76D (p.Glu76Asp) variant details
- p.Glu76Asp
- NCI-TCGA Cosmic COSV6615
- cosmic curated COSV66154
- TOPMed rs1819480050
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.14
- AlphaMissense 0.31
- MetaLR 0.18
- MetaSVM -0.94
- CADD 20.80
- PolyPhen-2 0.95
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available