K17R (p.Lys17Arg) variant of NF2 (Merlin)
K17R (p.Lys17Arg) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K17R (p.Lys17Arg) variant details
- p.Lys17Arg
- rs2064714998
- ClinGen CA411145941
- ClinVar RCV001365277
- ClinVar RCV002341773
- Uncertain significance
- Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.41
- CADD 23.60
- PolyPhen-2 0.18
- SIFT 0.13
- 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 9e-07)
- 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)