F71L (p.Phe71Leu) variant of MUSK (O15146)
F71L (p.Phe71Leu) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
F71L (p.Phe71Leu) variant details
- p.Phe71Leu
- gnomAD 9-110687121-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.33
- MetaLR 0.25
- MetaSVM -0.67
- CADD 24.80
- PolyPhen-2 0.22
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available