S13Y (p.Ser13Tyr) variant of NF2 (Merlin)
S13Y (p.Ser13Tyr) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S13Y (p.Ser13Tyr) variant details
- p.Ser13Tyr
- gnomAD 22-29604036-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.46
- CADD 27.00
- PolyPhen-2 0.73
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available