R25G (p.Arg25Gly) variant of NF2 (Merlin)
R25G (p.Arg25Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- rs2064716522
- ClinGen CA411146088
- ClinVar RCV001367085
- TOPMed rs2064716522
- Uncertain significance
- Neurofibromatosis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.70
- CADD 24.10
- PolyPhen-2 0.32
- SIFT 0.01
- 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)