L34L (p.Leu34Leu) variant of MUSK (O15146)
L34L (p.Leu34Leu) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L34L (p.Leu34Leu) variant details
- p.Leu34Leu
- rs368035058
- gnomAD 9-110682696-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 7.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available