S12I (p.Ser12Ile) variant of NF2 (Merlin)
S12I (p.Ser12Ile) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S12I (p.Ser12Ile) variant details
- p.Ser12Ile
- gnomAD 22-29604033-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.27
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available