V16I (p.Val16Ile) variant of MUSK (O15146)
V16I (p.Val16Ile) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V16I (p.Val16Ile) variant details
- p.Val16Ile
- gnomAD 9-110668950-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.10
- MetaLR 0.22
- MetaSVM -0.74
- CADD 21.00
- PolyPhen-2 0.08
- SIFT 0.16
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available