S53A (p.Ser53Ala) variant of MUSK (O15146)
S53A (p.Ser53Ala) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S53A (p.Ser53Ala) variant details
- p.Ser53Ala
- gnomAD 9-110682751-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.16
- MetaLR 0.13
- MetaSVM -1.03
- CADD 24.20
- PolyPhen-2 0.33
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available