V5del (p.Val5del) variant of MUSK (O15146)
V5del (p.Val5del) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
V5del (p.Val5del) variant details
- gnomAD 9-110668914-CTCG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 19.10
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available