P33S (p.Pro33Ser) variant of MUSK (O15146)
P33S (p.Pro33Ser) in MUSK (O15146) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- NCI-TCGA Cosmic COSV5188
- cosmic curated COSV51889
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.19
- MetaLR 0.35
- MetaSVM -0.29
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available