A39V (p.Ala39Val) variant of MUSK (O15146)
A39V (p.Ala39Val) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- gnomAD 9-110682710-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.10
- MetaLR 0.10
- MetaSVM -0.94
- CADD 22.20
- PolyPhen-2 0.26
- SIFT 0.87
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available