F47V (p.Phe47Val) variant of MUSK (O15146)
F47V (p.Phe47Val) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
F47V (p.Phe47Val) variant details
- p.Phe47Val
- gnomAD 9-110682733-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.47
- MetaLR 0.17
- MetaSVM -0.80
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available