N6D (p.Asn6Asp) variant of MUSK (O15146)
N6D (p.Asn6Asp) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
N6D (p.Asn6Asp) variant details
- p.Asn6Asp
- TOPMed rs1587867708
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.04
- MetaLR 0.15
- MetaSVM -0.98
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available