K15E (p.Lys15Glu) variant of NF2 (Merlin)
K15E (p.Lys15Glu) 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.
K15E (p.Lys15Glu) variant details
- p.Lys15Glu
- gnomAD 22-29604041-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.55
- CADD 23.80
- PolyPhen-2 0.15
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available