P2T (p.Pro2Thr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
P2T (p.Pro2Thr) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
P2T (p.Pro2Thr) variant details
- p.Pro2Thr
- rs1565632363
- ClinGen CA380342832
- ClinVar RCV000712371
- ClinVar RCV004649295
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- ESM-1b 0.00
- AlphaMissense 0.12
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available