N6K (p.Asn6Lys) variant of MUSK (O15146)
N6K (p.Asn6Lys) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N6K (p.Asn6Lys) variant details
- p.Asn6Lys
- gnomAD 9-110668922-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.09
- MetaLR 0.21
- MetaSVM -0.80
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available