E34K (p.Glu34Lys) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E34K (p.Glu34Lys) in MYBPC3 (Myosin-binding protein C, cardiac-type) 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 0.25 / 1. The record also includes structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- NCI-TCGA Cosmic COSV5702
- cosmic curated COSV57028
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- ESM-1b 0.00
- AlphaMissense 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available