R73Q (p.Arg73Gln) variant of C9ORF72 (Q96LT7)
R73Q (p.Arg73Gln) in C9ORF72 (Q96LT7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R73Q (p.Arg73Gln) variant details
- p.Arg73Gln
- rs1819480368
- ClinGen CA373140774
- NCI-TCGA Cosmic COSV6615
- cosmic curated COSV66154
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.27
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis. (PMID 25577942)