M9V (p.Met9Val) variant of NF2 (Merlin)
M9V (p.Met9Val) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
M9V (p.Met9Val) variant details
- p.Met9Val
- rs1249717688
- ClinGen CA411145809
- ClinVar RCV001016063
- ClinVar RCV001873273
- Uncertain significance
- Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.66
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Neurofibromatosis, type 2; Hereditary cancer-predisposing syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)