Q18E (p.Gln18Glu) variant of NF2 (Merlin)
Q18E (p.Gln18Glu) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q18E (p.Gln18Glu) variant details
- p.Gln18Glu
- gnomAD 22-29604050-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.43
- CADD 22.40
- PolyPhen-2 0.23
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available