A27G (p.Ala27Gly) variant of MUSK (O15146)
A27G (p.Ala27Gly) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A27G (p.Ala27Gly) variant details
- p.Ala27Gly
- rs56054734
- UniProt VAR 041748
- Ensembl rs56054734
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.15
- MetaLR 0.18
- MetaSVM -0.91
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)