R2S (p.Arg2Ser) variant of MUSK (O15146)
R2S (p.Arg2Ser) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R2S (p.Arg2Ser) variant details
- p.Arg2Ser
- gnomAD rs2075922199
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.21
- MetaLR 0.25
- MetaSVM -0.57
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available