A45V (p.Ala45Val) variant of MUSK (O15146)
A45V (p.Ala45Val) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- gnomAD 9-110682728-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.28
- MetaLR 0.14
- MetaSVM -0.98
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available