N64S (p.Asn64Ser) variant of MUSK (O15146)
N64S (p.Asn64Ser) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N64S (p.Asn64Ser) variant details
- p.Asn64Ser
- gnomAD 9-110682785-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.26
- MetaLR 0.13
- MetaSVM -0.89
- CADD 23.80
- PolyPhen-2 0.33
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available