K26E (p.Lys26Glu) variant of MUSK (O15146)
K26E (p.Lys26Glu) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K26E (p.Lys26Glu) variant details
- p.Lys26Glu
- gnomAD 9-110668980-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.28
- MetaLR 0.20
- MetaSVM -0.73
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available