P4S (p.Pro4Ser) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
P4S (p.Pro4Ser) 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 Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- rs1308785992
- ClinGen CA380342797
- ClinVar RCV001944963
- ClinVar RCV005672780
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.70
- PolyPhen-2 0.30
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available