R25K (p.Arg25Lys) variant of NF2 (Merlin)
R25K (p.Arg25Lys) 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; Familial meningioma; Neurofibromatosis. 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.
R25K (p.Arg25Lys) variant details
- p.Arg25Lys
- rs1569259813
- ClinGen CA411146095
- ClinVar RCV000703501
- ClinVar RCV001026507
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma; Neurofibromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.33
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma; Ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)