V38A (p.Val38Ala) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V38A (p.Val38Ala) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
V38A (p.Val38Ala) variant details
- p.Val38Ala
- Ensembl rs1595850711
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- ESM-1b 0.00
- AlphaMissense 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available