M48T (p.Met48Thr) variant of MUSK (O15146)
M48T (p.Met48Thr) 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.
M48T (p.Met48Thr) variant details
- p.Met48Thr
- 1000Genomes rs2131656675
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.23
- MetaLR 0.13
- MetaSVM -0.77
- CADD 22.80
- PolyPhen-2 0.44
- SIFT 0.24
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available