S12R (p.Ser12Arg) variant of NF2 (Merlin)
S12R (p.Ser12Arg) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- gnomAD 22-29604032-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.26
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.91
- Population evidence available
- Structural context available
- Literature evidence available