T46A (p.Thr46Ala) variant of MUSK (O15146)
T46A (p.Thr46Ala) 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.
T46A (p.Thr46Ala) variant details
- p.Thr46Ala
- gnomAD 9-110682730-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.26
- MetaLR 0.16
- MetaSVM -0.85
- CADD 25.70
- PolyPhen-2 0.60
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available