A74T (p.Ala74Thr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A74T (p.Ala74Thr) 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 Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A74T (p.Ala74Thr) variant details
- p.Ala74Thr
- rs1555123744
- ClinGen CA380341692
- ClinVar RCV000544448
- Ensembl rs1555123744
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 13.80
- PolyPhen-2 0.16
- SIFT 0.05
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available