V24M (p.Val24Met) variant of NF2 (Merlin)
V24M (p.Val24Met) in NF2 (Merlin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V24M (p.Val24Met) variant details
- p.Val24Met
- Ensembl rs2146660333
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.67
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neurofibromatosis, type)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available