H11R (p.His11Arg) variant of MUSK (O15146)
H11R (p.His11Arg) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H11R (p.His11Arg) variant details
- p.His11Arg
- TOPMed rs2075922938
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.21
- MetaLR 0.18
- MetaSVM -0.83
- CADD 24.10
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available