I68del (p.Ile68del) variant of MUSK (O15146)
I68del (p.Ile68del) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I68del (p.Ile68del) variant details
- rs1417996565
- gnomAD 9-110682795-CATT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 19.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available