A23P (p.Ala23Pro) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A23P (p.Ala23Pro) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A23P (p.Ala23Pro) variant details
- p.Ala23Pro
- rs758044508
- ClinGen CA015694
- ClinVar RCV001998141
- ExAC rs758044508
- Conflicting interpretations
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 14.80
- PolyPhen-2 0.86
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available