S76N (p.Ser76Asn) variant of MUSK (O15146)
S76N (p.Ser76Asn) 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 0.37 / 1. The record also includes population frequency data and structural context.
S76N (p.Ser76Asn) variant details
- p.Ser76Asn
- rs1352178393
- NCI-TCGA Cosmic COSV9950
- cosmic curated COSV99504
- gnomAD rs1352178393
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.11
- MetaLR 0.28
- MetaSVM -0.59
- CADD 23.60
- PolyPhen-2 0.57
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available