Q56E (p.Gln56Glu) variant of MUSK (O15146)
Q56E (p.Gln56Glu) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q56E (p.Gln56Glu) variant details
- p.Gln56Glu
- gnomAD 9-110682760-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -0.99
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available