Y75S (p.Tyr75Ser) variant of MUSK (O15146)
Y75S (p.Tyr75Ser) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Y75S (p.Tyr75Ser) variant details
- p.Tyr75Ser
- ExAC rs779767402
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.65
- MetaLR 0.50
- MetaSVM 0.03
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available