S19R (p.Ser19Arg) variant of MUSK (O15146)
S19R (p.Ser19Arg) in MUSK (O15146) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S19R (p.Ser19Arg) variant details
- p.Ser19Arg
- NCI-TCGA Cosmic COSV9950
- cosmic curated COSV99504
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.50
- MetaLR 0.35
- MetaSVM -0.46
- CADD 23.50
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available