V9L (p.Val9Leu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V9L (p.Val9Leu) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- rs1064793201
- ClinGen CA16619345
- ClinVar RCV000486424
- Ensembl rs1064793201
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- ESM-1b 0.00
- AlphaMissense 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available