P19H (p.Pro19His) variant of NF2 (Merlin)
P19H (p.Pro19His) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P19H (p.Pro19His) variant details
- p.Pro19His
- gnomAD 22-29604054-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.45
- CADD 23.20
- PolyPhen-2 0.33
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available