S12G (p.Ser12Gly) variant of NF2 (Merlin)
S12G (p.Ser12Gly) 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.
S12G (p.Ser12Gly) variant details
- p.Ser12Gly
- gnomAD 22-29604032-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.26
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available