A31T (p.Ala31Thr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A31T (p.Ala31Thr) 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 0.51 / 1. The record also includes population frequency data and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- rs536744834
- ClinGen CA057465
- ClinVar RCV004009847
- 1000Genomes rs536744834
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.36
- ESM-1b 0.32
- AlphaMissense 0.26
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available