S7F (p.Ser7Phe) variant of NF2 (Merlin)
S7F (p.Ser7Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S7F (p.Ser7Phe) variant details
- p.Ser7Phe
- rs2146659687
- ClinGen CA411145783
- ClinVar RCV002255254
- NCI-TCGA TCGA novel
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.56
- CADD 24.70
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-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)