L24P (p.Leu24Pro) variant of MUSK (O15146)
L24P (p.Leu24Pro) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L24P (p.Leu24Pro) variant details
- p.Leu24Pro
- gnomAD 9-110668975-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.54
- MetaLR 0.44
- MetaSVM -0.19
- CADD 28.50
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available