A23T (p.Ala23Thr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A23T (p.Ala23Thr) 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 Cardiovascular phenotype; not specified; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- rs758044508
- ClinGen CA056440
- NCI-TCGA Cosmic COSV5703
- cosmic curated COSV57033
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0936
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 8.39
- PolyPhen-2 0.35
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)