Q18K (p.Gln18Lys) variant of NF2 (Merlin)
Q18K (p.Gln18Lys) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q18K (p.Gln18Lys) variant details
- p.Gln18Lys
- gnomAD 22-29604050-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.35
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available