R8S (p.Arg8Ser) variant of NF2 (Merlin)
R8S (p.Arg8Ser) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- rs868416935
- ClinGen CA323099679
- cosmic curated COSV10009
- ClinVar RCV002457548
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.52
- CADD 24.30
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Neurofibromatosis, type)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: NF2-Related Schwannomatosis. (PMID 20301380)