N36S (p.Asn36Ser) variant of NF2 (Merlin)
N36S (p.Asn36Ser) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of NF2-related disorder; Familial meningioma; Neurofibromatosis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
N36S (p.Asn36Ser) variant details
- p.Asn36Ser
- rs372279458
- ClinGen CA021291
- cosmic curated COSV58522
- ClinVar RCV000121642
- Conflicting interpretations
- NF2-related disorder; Familial meningioma; Neurofibromatosis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.16
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (NF2-related disorder; Familial meningioma; Neurofibromatosis, ty)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- 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)