L67H (p.Leu67His) variant of MUSK (O15146)
L67H (p.Leu67His) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L67H (p.Leu67His) variant details
- p.Leu67His
- TOPMed rs752882699
- gnomAD rs752882699
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.24
- MetaLR 0.27
- MetaSVM -0.54
- CADD 22.90
- PolyPhen-2 0.39
- SIFT 0.17
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available