V44E (p.Val44Glu) variant of MUSK (O15146)
V44E (p.Val44Glu) 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.
V44E (p.Val44Glu) variant details
- p.Val44Glu
- gnomAD 9-110682725-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.27
- MetaLR 0.10
- MetaSVM -1.00
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available