N6H (p.Asn6His) variant of MUSK (O15146)
N6H (p.Asn6His) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N6H (p.Asn6His) variant details
- p.Asn6His
- gnomAD 9-110668920-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.20
- MetaLR 0.28
- MetaSVM -0.58
- CADD 23.00
- PolyPhen-2 0.56
- SIFT 0.29
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available