S12S (p.Ser12Ser) variant of NF2 (Merlin)
S12S (p.Ser12Ser) in NF2 (Merlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- rs371800843
- gnomAD 22-29604034-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 15.70
- Population evidence available
- Structural context available
- Literature evidence available