V9I (p.Val9Ile) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V9I (p.Val9Ile) 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 Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
V9I (p.Val9Ile) variant details
- p.Val9Ile
- rs1064793201
- ClinGen CA380342716
- ClinVar RCV001932493
- Ensembl rs1064793201
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- ESM-1b 0.00
- AlphaMissense 0.12
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available