G3R (p.Gly3Arg) variant of NF2 (Merlin)
G3R (p.Gly3Arg) in NF2 (Merlin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial meningioma; Neurofibromatosis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- Ensembl rs2146659491
- Uncertain significance
- Familial meningioma; Neurofibromatosis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.53
- CADD 25.50
- PolyPhen-2 0.38
- SIFT 0.01
- ClinVar: Uncertain significance (Familial meningioma; Neurofibromatosis, type 2)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available