D72Y (p.Asp72Tyr) variant of MUSK (O15146)
D72Y (p.Asp72Tyr) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D72Y (p.Asp72Tyr) variant details
- p.Asp72Tyr
- gnomAD 9-110687124-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.63
- MetaLR 0.26
- MetaSVM -0.65
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available