F35C (p.Phe35Cys) variant of NF2 (Merlin)
F35C (p.Phe35Cys) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
F35C (p.Phe35Cys) variant details
- p.Phe35Cys
- rs1601516107
- ClinGen CA411146291
- ClinVar RCV003608082
- ClinVar RCV005455848
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neurofibromatosis, type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)