V5D (p.Val5Asp) variant of MUSK (O15146)
V5D (p.Val5Asp) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V5D (p.Val5Asp) variant details
- p.Val5Asp
- gnomAD 9-110668918-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.42
- MetaLR 0.35
- MetaSVM -0.37
- CADD 24.20
- PolyPhen-2 0.17
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available