R8L (p.Arg8Leu) variant of NF2 (Merlin)
R8L (p.Arg8Leu) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- rs775564806
- ClinGen CA411145799
- cosmic curated COSV10009
- ClinVar RCV001976132
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.55
- CADD 23.90
- PolyPhen-2 0.07
- SIFT 0.19
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neurofibromatosis, type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)