R5M (p.Arg5Met) variant of NF1 (Neurofibromin)
R5M (p.Arg5Met) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R5M (p.Arg5Met) variant details
- p.Arg5Met
- Ensembl rs2143144621
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.12
- AlphaMissense 0.91
- MetaLR 0.01
- MetaSVM -0.95
- CADD 23.60
- PolyPhen-2 0.59
- Population evidence available
- Structural context available