P19S (p.Pro19Ser) variant of NF2 (Merlin)
P19S (p.Pro19Ser) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial meningioma; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- rs1477242482
- ClinGen CA411145980
- ClinVar RCV002005538
- ClinVar RCV002344167
- Uncertain significance
- not provided; Familial meningioma; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (not provided; Familial meningioma; Hereditary cancer-predisposin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)