S10I (p.Ser10Ile) variant of NF2 (Merlin)
S10I (p.Ser10Ile) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S10I (p.Ser10Ile) variant details
- p.Ser10Ile
- gnomAD 22-29604027-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.45
- CADD 24.90
- PolyPhen-2 0.14
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available