V5L (p.Val5Leu) variant of MUSK (O15146)
V5L (p.Val5Leu) in MUSK (O15146) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- ExAC rs765874906
- TOPMed rs765874906
- gnomAD rs765874906
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.04
- MetaLR 0.13
- MetaSVM -1.05
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available