E38K (p.Glu38Lys) variant of NF2 (Merlin)
E38K (p.Glu38Lys) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- gnomAD 22-29604110-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.65
- CADD 27.30
- PolyPhen-2 0.96
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available