V16F (p.Val16Phe) variant of MUSK (O15146)
V16F (p.Val16Phe) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V16F (p.Val16Phe) variant details
- p.Val16Phe
- gnomAD 9-110668950-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.25
- MetaLR 0.27
- MetaSVM -0.49
- CADD 24.00
- PolyPhen-2 0.30
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available