Y110C (p.Tyr110Cys) variant of C9ORF72 (Q96LT7)
Y110C (p.Tyr110Cys) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Y110C (p.Tyr110Cys) variant details
- p.Tyr110Cys
- rs1375695528
- ClinGen CA373140524
- ClinVar RCV001168603
- gnomAD rs1375695528
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis. (PMID 25577942)