I59N (p.Ile59Asn) variant of MUSK (O15146)
I59N (p.Ile59Asn) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I59N (p.Ile59Asn) variant details
- p.Ile59Asn
- gnomAD 9-110682770-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.66
- MetaLR 0.48
- MetaSVM -0.05
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available