A6P (p.Ala6Pro) variant of NF2 (Merlin)
A6P (p.Ala6Pro) 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 record also includes published literature and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- rs1601515753
- ClinGen CA411145753
- ClinVar RCV001012795
- Ensembl rs1601515753
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)