R8P (p.Arg8Pro) variant of NF2 (Merlin)
R8P (p.Arg8Pro) 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. The record also includes population frequency data, published literature, and structural context.
R8P (p.Arg8Pro) variant details
- p.Arg8Pro
- rs775564806
- ClinGen CA033605
- ClinVar RCV001955970
- ExAC rs775564806
- Uncertain significance
- Neurofibromatosis, type 2
- Missense
- ClinVar: Uncertain significance (Neurofibromatosis, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: NF2-Related Schwannomatosis. (PMID 20301380)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)