D38D (p.Asp38Asp) variant of MUSK (O15146)
D38D (p.Asp38Asp) 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.
D38D (p.Asp38Asp) variant details
- p.Asp38Asp
- gnomAD 9-110682708-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.10
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available