V16A (p.Val16Ala) variant of MUSK (O15146)
V16A (p.Val16Ala) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V16A (p.Val16Ala) variant details
- p.Val16Ala
- gnomAD 9-110668951-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.14
- MetaLR 0.13
- MetaSVM -0.97
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available