T33A (p.Thr33Ala) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
T33A (p.Thr33Ala) 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 Cardiomyopathy; Hypertrophic cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T33A (p.Thr33Ala) variant details
- p.Thr33Ala
- rs1265723882
- ClinGen CA380341934
- ClinVar RCV000560452
- ClinVar RCV003159716
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.37
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy; Cardiovascular phen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available