E32K (p.Glu32Lys) variant of NF2 (Merlin)
E32K (p.Glu32Lys) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- rs373337083
- ClinGen CA323099731
- cosmic curated COSV99052
- ClinVar RCV001019416
- Uncertain significance
- Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.59
- CADD 32.00
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (Neurofibromatosis, type 2; Hereditary cancer-predisposing syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)