S19G (p.Ser19Gly) variant of MUSK (O15146)
S19G (p.Ser19Gly) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S19G (p.Ser19Gly) variant details
- p.Ser19Gly
- gnomAD 9-110668959-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.16
- MetaLR 0.21
- MetaSVM -0.82
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available