V37A (p.Val37Ala) variant of MUSK (O15146)
V37A (p.Val37Ala) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V37A (p.Val37Ala) variant details
- p.Val37Ala
- ExAC rs745336025
- TOPMed rs745336025
- gnomAD rs745336025
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.33
- MetaLR 0.41
- MetaSVM -0.35
- CADD 26.50
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available