L15P (p.Leu15Pro) variant of MUSK (O15146)
L15P (p.Leu15Pro) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- Ensembl rs1425561584
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.52
- MetaLR 0.39
- MetaSVM -0.31
- CADD 28.60
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available