R2T (p.Arg2Thr) variant of MUSK (O15146)
R2T (p.Arg2Thr) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R2T (p.Arg2Thr) variant details
- p.Arg2Thr
- gnomAD 9-110668909-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.18
- MetaLR 0.23
- MetaSVM -0.68
- CADD 23.60
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available