K23E (p.Lys23Glu) variant of MUSK (O15146)
K23E (p.Lys23Glu) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K23E (p.Lys23Glu) variant details
- p.Lys23Glu
- gnomAD 9-110668971-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.20
- MetaLR 0.21
- MetaSVM -0.82
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available